PHYSIOLOGICOANATOMICAL FEATURES OF THE SKIN, THE SUBCUTANEOUS FAT AND LYMPH NODES

PhysiologicOAnatomical Features of the Skin, the Subcutaneous Fat and Lymph Nodes. The Technique of Their Research. Semiotics of THE Skin Disorders. Taking care of the children with THE Skin Diseases

The skin is a complex and important part of the body which plays a large role in the life and health of a child. It has a close physiological connection with the activity of some organs and the organism as a whole. Therefore the skin is the original screen that displays the pathological changes in the organism. A careful examination and an adequate estimation of the condition of the skin has an important role in making a diagnosis of a child’s disease.

As you remember the skin consists of 3 layers:

I. Epidermis which consists of  

a) corneal layer,

b) glassy layer,

c) grantilar layer,

d) spinous layer,

e) basal layer.

          Basal membrane separates epidermis from the dermis.

          II. Dermis.

III. Subcutaneous tissue.

 

 

Physiologicoanatomical features of the skin in children

The skin in a newborn is velvety smooth, puffy and friable, especially around the eyes, the legs, the dorsal aspect of the hands and feet, and the scrotum or labia.

There are some peculiarities of the epidermis in the newborn and young children:

 In the newborn the epidermis is thinner than in adults.

 The basal layer is well developed and has 2 kinds of cells – basal and melenocytes. The last ones do not produce melanin until the infant is 6 month. That is why the skin in the newborn is lighter in the first days of life.

The grantilar layer is thinner, consists of 2-3 lines of cells It is poorly developed except soles and palms. The absence of keratogliadin protein makes the skin transparent considerably, because keratogliadin protein gives the skin a white hue.

The glassy layer is absent.

The corneal layer is poorly developed, thin, it has only 2-3 lines of flattened corneal cells. The structure of the corneal layer is friable and puffy.

The clinical significance.  Iewborn and younger children the skin is susceptible to superficial bacterial infection, candidosis (oral moniliasis) and intertrigo with maceration, weeping and erosion.

The dermis comprises the major portion of the skin. It is firm, fibrous, and elastic connective tissue network containing an elaborate system of blood and lymphatics vessels, nerves. It varies throughout the body from 1 to 4 mm in thickness. It is invaded by the epidermal downgrowth of hair follicles, sweat and sebaceous glands. The dermis consists of papillary and reticular layers.

There are some peculiarities of the dermis in the newborn and young (little) children:

 In the newborn the papillary layer is poorly developed. In the premature infant it is absent.

The dermis has an embryonic structure – it has a lot of cellular elements and a little amount of fibrous structures. Elastic fibres are absent. They first appear in 5-6 months of life.

 Labrocytes (mast cells) have a high biological activity.

 In the newborn the quantity of water is higher than in an adult (80 % and 6-8 % respectively) in the dermis.

The basal membrane is poorly developed. It leads to easy separation of the epidermis from the dermis, it results in epidermolysis.

Morphological maturity of the derma occurs by 6 years.

The clinical significance. A newborn and an infant more often show blistering (bullous) reactions caused by the poor adherence between the epidermis and the dermis and frequently affected by chronic atopic dermatitis (eczema).

 

Basic physiological functions of the skin

The protective function is an immature function, it occurs because of thin epidermis and dermis, immature basal membrane, a little amount of fibrous structures and a good developing of blood vessels network.

The bactericidal function is an immature function, it is due to pH of the newborn skin (6.1-6.7) in an adult pH is acidic (4.2-5.6)). This pH medium is favourable for developing microbes.

The thermoregulation is immature function as the result of high emission heat process and immature heat production. The high emission heat processes occur because of a thin skin, a later beginning of sweat glands functioning, a well developed superficial vessel network, the vessels are in physiological vasodilatation. Muscles of the hair bulbs are poor developed, so gooseflesh does not appear.

The respiratory function is well developed. It helps immature lungs to perform the respiratory function. The intensity of the respiratory function is more intensive by 8 times in a newborn than in an adult. Well developed respiratory functions are caused by puffy and thin skin, a well developed superficial vessel network, physiological vasodilatation of vessels.

The deposition function is well developed. The skin is the depot of blood and water.

The reception (receptor) function is well developed. There are a lot of nerves in the skin, so the skin is a peripheral analyzer that grasps endo– and exogenous stimuli.

The excretion function is provided by sweat glands. The skin excretes some products of metabolism of fat and carbohydrate and different medicaments. The excretion function of the skin begins with the beginning of functioning sweat and sebaceous glands (3-4 months).

The resorption is well developed. It is caused by puffy and thin skin, well developed superficial vessel network, a great number of sebaceous glands and hair follicles. But resorption depends on the chemical structure of the substance: liposoluble substances are well absorbed, water-soluble substances are nonabsorptive.

The buffer function is poor developed, because in newborn and young children pH of the skin is nearly neutral (pH 6.1-6.7) therefore the skin can’t neutralize acids and alkaline.

The pigmentation function is immature.

The synthesis of vitamins. The skin synthesizes vitamin D and other biologically active substances.

 The secretation function. The skin secretes keratin, squalen, calcium and phosphorus. In a newborn the secretion of  keratin and squalen is decreased, the secretion of calcium and phosphorus is increased.

The metabolic function is well developed, therefore newborns and young children have a high regeneration of the epidermis and d the ermis.

 

Physiologicoanatomical features of appendages of the skin in children

Appendages of the skin are sebaceous gland, sweat gland, hair.

Sebaceous glands are well developed, begin to function since 7-months of the intrauterine life. The quantity of sebaceous glands in 1 cm2 is relatively large in a newborn.

Millia is often seen in the newborn. That is the obstruction of the excretory duct of sebaceous glands. Millia localizes on the nose and cheeks, have yellow-roseate color, its size is 1×1 mm. Millia disappears by 2-3 month.

Sweat glands are poorly developed.

There are two types of sweat glands: eccrine and apocrine. In a newborn eccrine sweat glands are well formed, but their excretory ducts are feebly developed and obstructed. Eccrine sweat glands begin secretory function by 2 months.

Morphological and physiological maturity of eccrine sweat glands occurs by 5-7 years.

The formation of apocrine sweat glands finishes by one year but they begin to function only in the puberty period.

Hair. The hair covering the skin in a newborn falls gradually during the first year of life instead of permanent hair appearance. With age the hair becomes thicker.

Subcutaneous fat. In a newborn the thickness of subcutaneous fat is relatively larger than in an adult (12 % and 8 % in an adult). Distribution of the fat is not regular in a newborn. They have good subcutaneous fat all over the body except the abdomen where there is insensitive deposition during the first 6 months.

The subcutaneous fat has an embryonic structure; it gives the possibility to deposit fat and to perform the hemopoietic function.

If we look at the chemical structure of the subcutaneous fat we will see the predomination of saturated fatty acids. This gives a good turgor to the skin.

The next peculiarity of the subcutaneous fat in the newborn is the presence of a brown adipose tissue. It localizes in the back neck part, in the axillary area, around the thyroid gland and the kidneys, in the intrascupullar space and around great vessels. The main function of the brown fat is heat production without muscle contraction. In 5-6 months the brown fat disappears. The subcutaneous fat is absent in the abdomen, peritoneal and thoracic cavities, therefore the inner organs are movable.

 

The peculiarity of the skin iewborn

At birth the skin is covered with grayish-white, cheese-like substance called vernix caseosa. If it is not removed during the first bath, it will dry and disappear in 24 or 48 hours. It is thought to have insulating and bacteriostatic properties. A fine, downy hair called lanugo is present on the skin, especially on the forehead, cheeks, shoulders and back. It usually disappears spontaneously in a few weeks.

 

The technique of the examining of the skin

         The skin is assessed for color, texture, temperature, moisture, and turgor. Hair is also inspected for color, texture, quality, distribution, and elasticity. The examination of the skin and its accessory organs primarily involves inspection and palpation.

         Physical factors influencing assessment. The doctor examines the child in a well-illuminated room, with nonglare lighting. Ideally, the room should be neutral in color. Colors such as pink, blue, yellow, or orange cast deceiving glows on the skin. The room should also be comfortably warm, since air-conditioning can cause a cold-induced cyanosis and excessive heat can produce flushing. Poor hygiene and artificial paint oails or lips also mask the true determination of color. Sometimes it is necessary to clean the skin with soap and water and to remove cosmetics before beginning the inspection. Although not a common situation in pediatrics, the doctor should remembers that such factors can hide the signs of ecchymoses, petechiae, pallor, or cyanosis.

         Texture, temperature, moisture, and turgor can be subjectively inspected, but palpation must be done for a greater accuracy. Clothing always interferes with palpation, thereby necessitating that the doctor examines each area of the body nude either as the part of the general overall examination or combined with the assessment of each body system. Since texture is affected by climatic exposure, such as cold, sun, wind, and so on, the doctor should compare the texture of the areas of the body that are usually clothed with those that are generally exposed.

         Genetic factors influencing the assessment of color. The normal color in light-skinned children varies from a milky-white and rosy color to a more deep-hued pink color. In general bluish discoloration or cyanosis is not normal, except in a newborn. Dark-skinned children, such as American Indians, Hispanic, black, Latin, Mediterranean, or Oriental descents, have inherited various brown, red, yellow, olive-green and bluish tones in their skin, which can falsely alter the assessment. For example, some children of Mediterranean origiormally have bluish-tinged lips, suggestive of cyanosis. Oriental persons, whose skin is normally of a yellow tone, may appear to be jaundiced. Full-blooded black individuals often have normal bluish pigmentation of the gums, buccal cavity, borders of the tongue, and nail beds. The visible portion of their sclera may contain speckled deposits of brown melanin that resemble petechiae.

         Physiologic factors influencing the assessment of color. Edema of the skin affects color in all individuals because it increases the amount of interstitial fluid, thereby increasing the distance between the outermost layers of the epidermis and the pigmented and vascular layers. Edema decreases the intensity of the skin color, sometimes producing a false pallor.

         Exposure to sunlight, on the other hand, stimulates the melanocytes to produce more melanin, thereby increasing the color of the skin. Individuals who are deeply suntanned require as careful observation as those who are genetically dark skinned.

         In general the amount of adipose tissue does not markedly affect the skin color because the deposition of fat cells is below the pigmented layers of the skin. However, the doctor should be aware that overnutrition may not mean adequate nutrition, and the observation of pallor that may be indicative of nutritional-iron deficiency should be carefully assessed.

         Reliable areas for the assessment of color. Color changes are most reliably assessed in those areas of the body where melanin production is least: sclera, conjunctiva, nail beds, lips, tongue, buccal mucosa, palms, and soles. These areas are rarely affected by edema or amount of adipose tissue but are sensitive to changes from physical factors, such as use of cosmetics, ingestion of colored food substances, or poor hygiene.

         Variations in the skin color. In general color changes of significance include pallor, cyanosis, erythema, plethora, ecchymosis, petechiae, and jaundice.

          Pallor and cyanosis. The skin receives its pigmented color of yellow, brown, and black from melanin and its shades of red or blue from the color of hemoglobin. Oxygenated hemoglobin in the superficial capillaries of the dermis gives a rosy, pink glow. Reduced (deoxygenated) hemoglobin reflects a bluish tone through the skin, called cyanosis, which is evident when reduced hemoglobin levels reach 5 mg/dl of blood or more, regardless of the total hemoglobin. In general the darker the skin pigmentation is, the greater the amount of deoxygenated hemoglobin must be for cyanosis to be evident.

         Pallor, or paleness, is evident as a loss of the rosy glow in light-skinned individuals, an ashen-gray appearance in black-skinned children, and a more yellowish brown color in brown-skinned people. It may be a sign of anemia, chronic disease, edema, or shock. However, it may be a normal complexion characteristic or an indication of indoor living.

         Pallor or cyanosis is most evident in the palpebral conjunctiva (lower eyelid), nail beds, earlobes (mainly for light-skinned children), lips, oral membranes, soles, and palms. Pallor or cyanosis can be compared to the color change normally produced by blanching. For example, in nonpigmented nails, pressing down on the free edge of the nail on the index or middle finger of a child with good skin color produce marked blanching or whitening as compared to the return blood flow. In a child with pallor the difference in color change will be slight. The blanching color change can be observed in dark-skinned individuals by gently applying pressure to their lips or gums.

         Erythema. Erythema, or redness of the skin, may be the result of increased temperature from climatic conditions, local inflammation, or infection. It may also appear as a sign of skin irritation, allergy, or other dermatoses. The degree of redness reflects the amount of increased blood flow to the area. The doctor notes any reddening and describes its location, size, presence of warmth, itching, type of distribution (diffuse, clearly circumscribed, parallel to a vein, and so on), and the presence of characteristic lesions, such as maculae, papules, or vesicles (see tables 3.1-2). Because erythema is much more difficult to assess in darkly pigmented individuals, the doctor must rely heavily on careful palpating the area for the evidence of associated signs, such as warmth or skin lesions. Primary lesions appear on the nondamaged skin. Secondary lesions come out after primary ones.

There are two types of lesions on the skin – primary and secondary. Primary lesions are divided into nonvesicle and vesicle.

 

Primary lesions of the skin

 

 

 

                                         

Roseola                                                                                               Maculae

 

                   

Hemorrhagic rash

 

 

Hemorrhagic rash (necrotizing)

 

           

Papule                                                                                           Vesicle

 

Bulla

 

Common secondary the skin lesions

 

 

         Plethora. Plethora is also seen as redness of the skin but it is caused by increased numbers of red blood cells as a compensatory response to chronic hypoxia. Intense redness of the lips or cheeks is observed.

         Ecchymosis and petechiae. Ecchymosis and petechiae are caused by extravasation or hemorrhage of blood into the skin, the only difference between the two is in size. Ecchymoses are large, diffuse areas, usually black and blue in color, and are typically the result of accidental injuries in healthy, active children. Since ecchymotic areas can be indicative of systemic disorders or of child maltreatment, the doctor should always investigate the reported cause of the bruises, especially when they are located in suspicious areas, such as the back or buttocks, rather than on the knees, shins, elbows, or forearms.

         Petechiae are small, distinct pinpoint hemorrhages 2 mm or less in size, which can denote some type of blood disorder, such as decreased platelets in leukemia. Because of their size, ecchymoses are more readily observed than are petechiae, which may only be visible in the areas of very light-colored skin, such as the buttocks, abdomen, and inner surfaces of the arms or legs. They are usually invisible in heavily pigmented skin, except in the oral mucosa, the palpebral conjunctiva of the eyelids, and the bulbar conjunctiva covering the eyeball.

         The doctor can distinguish the areas of erythema from ecchymosis or petechiae by blanching the skin. Since erythema is the result of increased blood flow to the area, exerting pressure will momentarily empty the engorged vessels and produce blanching. Because the other discolorations are produced by blood leaking into tissue spaces, blanching will not occur.

         Jaundice. Jaundice, a yellow staining of the skin usually caused by bile pigments, is always a significant finding. It is most reliably observed in the sclera of the eyes in both dark- and light-skinned children, but it may also be evident in the skin, fingernails, soles, palms, and oral mucosa membranes of the latter group. If a yellow-orange cast is noted in an otherwise healthy child, the doctor should inquire about the quantity of ingested yellow vegetables, such as carrots, which in excess produce a yellow-orange color from deposits of carotene in the skin, called carotenemia.

          The doctor palpates the skin for texture, noting moisture and temperature. Any marks or scars that are suggestive of healed injuries are noted, and inquiries are made about their origin. Normally the skin of young children is smooth, soft, and slightly dry to the touch, not oily or clammy. Any variations from these findings are noted, because they may indicate common problems of childhood such as cradle cap (scaliness on the scalp), eczema (scaliness and desquamation on the scalp, cheeks, knees, and elbows), diaper rash (redness and dryness in the genital area), or excessive dryness (xeroderma) all over the body from too frequent bathing, exposure to the weather, or vitamin-A deficiency. Excessively moist, clammy skin may indicate serious health problems, particularly heart disease.

         Assessment of the temperature. A doctor evaluates the skin temperature by symmetrically feeling each part of the body and comparing the upper areas with the lower ones. Any distinct difference in temperature is noted. Although not a common anomaly, one of the key signs for coarctation of the aorta is warm upper extremities and cool lower ones. A doctor also observes the skin temperature of the dressed child. Young children produce heat rapidly, and they quickly become overheated if dressed too warmly. Many parents do not realize this and fail to change the amount of clothing to accommodate climactic variations.

 

Assessment of the temperature

 

Assessment of the texture of the skin. A doctor palpates the skin in symmetric spots of the body and in the extremities particularly on the palms and soles and notes their moisture and temperature. Normally the skin of young children is smooth, soft and slightly dry to the touch, not oily or clammy.

Assessment of the skin elasticity. It is best determined by grasping the skin on the external surface of the palms or flexor surface of an elbow between a thumb and index finger, pulling it taut, and quickly releasing it. Elastic tissue immediately assumes its normal position without residual marks or creases. In children with poor skin elasticity and turgor the skin remains suspended or tented for a few seconds before slow falling back.

Assessment of the skin turgor. It is determined by tension of the soft tissues of the shoulder or the femur with fingers. Normally the doctor must feel flexibility or elasticity of the tissues.

The skin turgor and its elasticity are the best estimates of an adequate hydration and nutrition.

While evaluating turgor, the nurse also inspects for signs of edema, normally evident as swelling or puffiness. Periorbital edema is a sign of several systemic disorders, such as kidney diseases, but may normally be seen in children who have been crying or sleeping or who have allergies. Edema should be evaluated for change according to position, its specific location, and response to pressure. For example, in pitting edema, pressing a finger into the edematous area will cause a temporary indentation.

 

 

Accessory organs

         Hair. The hair is inspected for color, texture, quality, distribution, and elasticity. Children’s scalp hair is usually lustrous, silky, strong, and elastic. Genetic factors affect the appearance of hair. For example, the hair of black children is usually curlier and coarser than that of white children. Hair that is stringy, dull, brittle, dry, friable, and depigmented may suggest poor nutrition. Any bald or thinning spots are recorded. Although alopecia can be a sign of various skin disorders, such as tinea capitis, loss of hair in infants may be indicative of lying in the same position and may be a clue for counseling parents concerning the child’s stimulatioeeds.

         The doctor also inspects the hair and scalp for general cleanliness. Various ethnic groups condition their hair with oils or lubricants, which, if not thoroughly washed from the scalp, clog the sebaceous glands, causing scalp infections. The doctor also inspects hair shafts for lice, whose ova appear as grayish translucent flakes. The doctor can distinguish the ova or nits from dandruff because the eggs adhere to the hair. If pediculosis capitis is suspected, the doctor should be careful to guard against self-infestation of the lice by wearing gloves, washing the hands after the examination, and standing away from the child when looking through the hair.

         The doctor also inspects the scalp for ticks, which appear as grayish or brown oval bodies. Although they can be found anywhere on the body, the most common sites are exposed parts, such as the head. Although not all dog or wood ticks transmit serious disease, a notation is made on the child’s chart of its removal in case symptoms appear.

         Unusual hairiness anywhere on the body, such as arms, legs, trunk, or face, is noted. Tufts of hair anywhere along the spine, especially over the sacrum, are significant because they can mark the site of spina bifida occulta.

         In older children who are approaching puberty, the doctor observes for growth of secondary hair as signs of normally progressing pubertal changes. Precocious or delayed appearance of hair growth is noted because, although not always suggestive of hormonal dysfunction, it may be of great concern to the early- or late-maturing adolescent.

         Nails. The nails are inspected for color, shape, texture, and quality. Normally the nails are pink, convex in shape, smooth, and hard but flexible, not brittle. The edges, which are usually white, should extend over the fingers. Dark-skinned individuals may have more deeply pigmented nail beds. Variation in color, such as blueness, is suggestive of cyanosis, and a yellow tint may indicate jaundice. Bluish black discoloration usually indicates hemorrhage under the nail from trauma. Fungal infections cause the entire nail to become whitish in color, with a pitting surface. Short, ragged nails are typical of habitual biting. Uncut nails with dirt accumulated under the edge are sometimes an indication of poor hygiene.

         Changes in the shape of nails are also significant. For example, concave curves or “spooails”, called koilonychia, are sometimes seen in iron-deficiency anemia, a commoutritional problem of children. Clubbing of the nails is always a significant finding and it is usually associated with chronic cyanosis. In clubbing the base of the nail becomes visibly swollen and feels springy or floating when palpated, rather than firm as in the normal nail.

         Dermatoglyphics. Each individual has a distinct set of handprints and footprints created by epidermal ridges and creases formed in the third month of prenatal life and cracks that develop subsequently throughout the individual’s life-time. The patterns, or dermatoglyphics, are unique to the individual and vary a great deal in detail and complexity of patterns. For example, fingerprint patterns consist of loops, swirls, and arches in highly individualized types and combination. Flexion creases also appear on the palm of the hand and the sole of the foot. The palm normally shows three flexion creases. In some situations the two distal horizontal creases are fused to form a single horizontal crease called a single palmar crease, or simian crease, which is noted in almost all conditions that are caused by chromosomal abnormalities. Another variatiooted by some investigators is the Sydney line, in which the transverse palmar crease extends to the ulnar margin of the palm. This is seen in a large percentage of children with rubella syndrome. If grossly abnormal lines or folds are observed, the doctor should sketch a picture to describe them and refer the finding to a specialist for further investigation.

 

Assessment of the lymph nodes

         Lymph nodes are usually assessed when the part of the body in which they are located is examined. Although the body’s lymphatic drainage system is extensive, the usual sites for palpating accessible lymph nodes are shown in Fig. 6.2. Since the major function of lymph nodes is to collect and filter the lymph of bacteria and other foreign matter as it returns to the circulatory system, a doctor must have knowledge of the lymph’s directional flow. Tender, enlarged warm lymph nodes are generally indicative of infection or inflammation proximal to their location. For example, occipital or postauricular adenopathy is often seen in local scalp infection, such as pediculosis, tick bite, or external otitis. Cervical adenopathy usually accompanies acute infections in or around the mouth or throat. In children, however, small, nontender, movable nodes are frequently normal.

         Nodes are palpated with the distal portion of the fingers, by gently but firmly pressing in a circular motion along the regions where nodes are normally present. When assessing the nodes in the head and neck, the child’s head is tilted upward slightly but without tensing the sternocleidomastoid or trapezius muscle. This position facilitates palpation of the submental, submaxillary, tonsillar, and cervical nodes. The axillary nodes are palpated with the arms relaxed at the side but slightly abducted. The inguinal nodes are best assessed with the child in the supine position.

         Localization, quantity, size, shape, mobility, consistency (elastic or dense), temperature, and tenderness are noted, as well as reports by the parents regarding any visible change of enlarged nodes.

 

 

 

Palpation of occipital and submandibular lymph nodes lymph nodes

 

 

Palpation of submental and posterior cervical lymph nodes

 

 

Palpation of posterior axillary lymph nodes

Palpation of cubital lymph nodes

Palpation of supraclavicular and subclavicular lymph nodes

Assessment of the skinfold thickness

It is examined by grasping the fold of the skin and subcutaneous fat on the abdomen, under the scapula, the shoulder blade and thigh between a thumb and an index finger.

Normally the skinfold thickness is 1.5-2.0 cm.

 

 

Assessment of the skin fold

 

Skin disorder syndromes

1. Syndrome of changing the color of the skin and the mucous membranes (symptom of cyanosis, jaundice, paleness and hyperemia).

2. Syndrome of exudative diathesis (maceration, weeping, erosion, scaling, hyperemia, cradle cap).

3. Hemorrhagic skin syndrome (petechiae, hematoma, ecchymosis).

4. Dystrophy syndrome (thin skin, trophic rash, scaling, fissure).

5. Syndrome of injuring the skin (scratches, intertrigo, ulcer, excoriation or erosion, wound).

6. Pigmentation changes syndrome (local or total hyperpigmentation or depigmentation).

7.   Moisture changes syndrome (dry skin, wet or mist skin).

8.   Sensation changing the skin syndrome.

9.   Elasticity changing the skin syndrome.

10.  Itching syndrome (total or local).

11.  Syndrome of general skin lesions.

12.  Syndrome of local skin lesions.

 

The mucous membranes disorder syndromes

1. Fungous damage of the mucous membranes (candidosis, oral moniliasis).

2.  Syndrome of inflammation of the mucous  membranes  (ulcer,  erosion, hyperemia, aphtae).

 

The lymph nodes disorder syndromes

1.   Hyperplastic syndrome of lymph nodes (local, general).

2.   Lymphadenitis (local, general).

The Subcutaneous fat disorder syndromes

1.   Syndrome of sclerema.

2.   Syndrome of sclerederma.

3.   Syndrome of decreased turgor.

4.   Syndrome of decreased trophy (local, general (anasarca)).

5.   Syndrome of excessively developed fat (paratrophy, obesity).

6.   Syndrome of edema (total, local).

7.   Syndrome of thickening (infiltration) of subcutaneous fat.

8.   Syndrome of myxedema.

 

Appendages of the skin disorder syndromes Hair disorders syndromes

1. Alopecia syndrome (universal, circumscribed).

2. Hypertrichosis or hyrsutism (excessive pilosis).

3. Hypotrichosis.

4.  Dystrophic disorders of hair (thin hair, tailing of hair, fragility of hair,lusterless of hair).

5. Syndrome of untypical growth of hair.

 

Nails disorders syndromes

1. Dystrophic disorders of nails:

a)     micotic lesion;

b)    trauma;

c)     congenital disease.

2.  Syndrome of inflammation of nail.

3.  Nail dysplasia.

4.  Deformation of nails syndrome (congenital, acquired).

 

Growth of the cartilage and the bone

Growth of the skeleton follows a genetically programmed developmental plan that furnishes not only the best indicator of general growth progress, but also provides the best estimate of biologic age. Some degree of assessment can be achieved by observation of facial bone development (nasal bridge height, prominence of malar eminences, and mandibular size), but the most accurate measure of general development is the determination of osseous maturation by roentgenography. Skeletal age appears to correlate more closely with other measures of physiologic maturity (such as the onset of menarche) than with chronologic age or height. This “bone age” is determined by comparing the mineralization of ossification centers and advancing bony form to age-related standards. Skeletal maturation begins with the appearance of centers of ossification in the embryo and ends when the last epiphysis is firmly fused to the shaft of its bone.

In the healthy child skeletal growth and development consist of two concurrent processes: (1) the creation of new cells and tissues (growth), and (2) the consolidation of these tissues into a permanent form (maturation). Early in fetal life embryonic connective tissues begin to differentiate and become more closely packed to form cartilage. This cartilage is enlarged by cell division and expansion within the forming structures and by the laying down of successive layers on the surface of the mass. During the second month of fetal life, bone formation begins when calcium salts are deposited in the intercellular substance (matrix) to form calcified cartilage first and then true bone. There are some differences in this bone formation. In small bones, the bone continues to form in the center and cartilage continues to be laid down on the surfaces. Bones of the face and cranium are laid out in a tough membrane and directly ossified into bone during fetal life.

In long bones the ossification takes place in two centers. It begins in the diaphysis (the long central portion of the bone) from a “primary” center and continues in the epiphysis (the end portions of the bone) at “secondary” centers of ossification. Situated between the diaphysis and the epiphysis is an epiphyseal cartilage plate that is united to the diaphysis by columns of spongy tissue, the metaphysis (Fig. 7). It is at this site that active growth in length takes place, and interference with this growth site by trauma or infection can result in deformity. Under the influence of hormones, primarily pituitary growth hormone and thyroid hormone, bones increase in circumference by the formation of a new bone tissue beneath the membrane that surrounds the bone (periosteum) and in length by proliferation of the cartilage.

 

 

 

Over the growth period of approximately 19 to 20 years, this development can be divided into three distinct but over-phases: (1) ossification of the diaphysis, (2) ossification of the epiphysis, and (3) invasion and subsequent replacement of growth cartilage plates with bony fusion of epiphysis and diaphysis. These changes do not take place in all bones simultaneously but appear in a specific order and at a specific time. Although the speed of bone growth and amount of maturity at specific ages vary from one child to another, the order of ossification is constant. The first center of ossification appears in the 2-month-old embryo, and at birth the number is approximately 400, about half the number at maturity. New centers appear at regular intervals during the growth period and provide the basis for assessment of “bone age.” Postnatally, the earliest centers to appear (at 5 to 6 months of age) are those of the capitate and hamate bones in the wrist. Therefore, roentgenograms of the hand and wrist provide the most useful areas for screening to determine skeletal age, especially before age 6 years. A common rule of thumb is: age in years + 1 = number of ossification centers in the wrist. These centers appear earlier in girls than in boys.

Skeletal development advances until maturity through the growth of ossification centers and the lengthening of long bones at the metaphysis and cartilage plates. Linear growth can continue as long as the epiphysis is separated from the diaphysis by the cartilage plate; when the cartilage disappears, the epiphysis unites with the diaphysis and growth ceases. Epiphyseal fusion also follows an orderly sequence, thus the timing of epiphyseal closure furnishes another medium for measuring the skeletal age.

Investigation and assessment based on bone growth furnish a reliable index of growth rate in the individual child. In addition to the assessment of the general developmental and nutritional status of the child, the findings are of value in the diagnosis of many metabolic and endocrine disturbances affecting growth as well as some congenital conditions.

 

Dentition

 

The course of dentition is sometimes divided into four major stages: (1) growth, (2) calcification, (3) eruption, and (4) attrition. The primary teeth arise as outgrowths of the oral epithelium during the sixth week of embryonic life and begin to calcify during the fourth to sixth months. Tooth buds form at 10 different points in each arch and eventually become the enamel organs for the 20 primary (deciduous) teeth. All the buds are present at birth, but the amount of enamel laid down varies with each set of teeth. Hard tissue formation generally occurs between 4 and 6 months of fetal life.

Teeth are divided into quadrants of the lower mandible and upper maxilla and are named for their location in each quadrant of the dental arch, such as central incisor, lateral incisor, and first and second molars. Teeth are also named after their specific function in the mastication of food. The central and lateral incisors, which have a knifelike, or scissorlike shape, cut the food. The cuspids, also called canines, tear the food. The term cuspid refers to the single point or cusp shape of the crown. The two premolars, or bicuspids because of their two-pointed crown, crush the food. The permanent molars, which have four or five cusps, grind the food.

About the middle of the first year the primary teeth begin to erupt, although calcification is not completed until sometime during the third year. The age of tooth eruption shows considerable variation among all children, but the order of their appearance is fairly regular and predictable (Fig. A and B). The first primary teeth to erupt are the lower central incisors, which appear at approximately 6 to 8 months of age. This may vary from 4 months to 1 year iormal children, and infants may even be born with teeth. One incisor erupts, followed closely by the homologous incisor. The total of 20 primary teeth is acquired in characteristic sequence by 30 months of age. Calcification of the primary teeth is complete at this time. A quick guide to assessment of deciduous teeth during the first 2 years is: the age of the child in months – 6 = number of teeth that should be present.

The first permanent (secondary) teeth erupt at about 6 years of age. Before their appearance they have been developing in the jaw beneath the deciduous (primary) teeth. Meanwhile, the roots of the latter are gradually being absorbed so that at the time a deciduous tooth is shed, only the crown remains. At 6 years of age all the primary teeth are present and those of the secondary dentition are relatively well formed. At this time eruption of the permanent teeth begins, usually starting with the 6-year molar, which erupts posterior to the deciduous molars. The others appear in approximately the same order as eruption of the primary teeth and follow shedding of the deciduous teeth. The pattern of shedding primary teeth and the eruption of secondary teeth are subject to wide variation among children. To allow the larger permanent teeth to occupy the limited space left by shed primary teeth, a series of complicated changes must take place in the jaws. It is at this time that many of the difficulties created by crowding of teeth become apparent. With the appearance of the second permanent (12-year) molar, most of the permanent teeth are present. The third permanent molars, or wisdom teeth, may erupt from 18 to 25 years of age or later. A quick guide to assessment of permanent teeth is: the age of the child in years x 4 – 20 = number of teeth that should be present.

 

 

 

 

 

 

 

Permanent dentition, as in other aspects of development, is somewhat more advanced in girls than it is in boys. The eruption of teeth is sometimes used as a criterion for developmental assessment, especially the 6-year molar, which seems to be the most universally consistent in timing. However, dental maturation does not correlate well with bone age and is less reliable as an index of biologic age. Retarded eruption is more common than accelerated eruption and may be caused by heredity or may indicate health problems such as endocrine disturbance, nutritional factors, or malposition of teeth.

 

Growth of the muscle

As skeletal development is responsible for linear growth, muscle growth accounts for a significant portion of the increase in body weight. The number of muscle fibers is established by the fourth or fifth month of fetal life and remains constant throughout life. Differences in muscle size between individuals and differences in one person at various times during a lifetime are the result of the ability of the separate muscle fibers to increase in size. The increase in muscle fiber length that accompanies growth is also associated with an increase in the number of nuclei in the fibers. This increase is most apparent during the adolescent growth spurt. At this time the increase in secretion of growth hormone and adrenal androgens stimulates the growth of muscle fibers in both sexes, but the growth in boys is further stimulated by the secretion of testosterone. At about 6 months of prenatal life, muscle mass constitutes approximately one sixth of the body weight; at birth, about one fourth, and at adolescence, one third. The variability in size and strength of muscle is influenced by genetic constitution, nutrition, and exercise. At all ages muscles increase in size with use and shrink with inactivity. Consequently maintaining muscle tone to minimize the amount of atrophy in skeletal muscle through active or passive range of motion exercises is an important protective nursing function.

 

 

Peculiarity of musculoskeletal the system iewborn

 

At birth the skeletal system contains larger amounts of cartilage than ossified bone, although the process of ossifi­cation is fairly rapid during the first year. The nose, for example, is predominantly cartilage at birth and is fre­quently flattened by the force of delivery. The six skull bones are relatively soft and not yet joined. The sinuses are incompletely formed in the newborn as well.

Unlike the skeletal system, the muscular system is almost completely formed at birth. Growth in the size of muscular tissue is caused by hypertrophy, rather than hyperplasia of cells.

 

Physiologicoanatomical peculiarities of the chest

 

Although the thoracic cavity houses two vital organs, the heart and lungs, the anatomic structures of the chest wall are important sources of the information concerning cardiac and pulmonary function, skeletal formation. The chest is inspected for size, shape, symmetry, movement and the presence of the bony landmarks formed by the ribs and sternum.

The doctor must become familiar with locating and properly numbering each rib, because they are geographic landmarks for palpating, percussing, and auscultating underlying organs. Normally all the ribs can be counted by palpating inferiorily from the second rib. The tip of the eleventh rib can be felt laterally, and the tip of the twelfth rib can be felt posteriorily. Other helpful landmarks include the nipples, which are usually located between the fourth and fifth ribs or at the fourth interspace and, posteriorly, the tip of the scapula, which is located at the level of the eighth rib or interspace. In children with thin chest walls, correctly locating the ribs presents little difficulty.

The thoracic cavity is also divided into segments by drawing imaginary lines on the chest and back: the anterior, lateral, and posterior divisions. The doctor should become familiar with each imaginary landmark, as well as with the rib number and corresponding interspace.

The size of the chest is measured by placing the tape around the rib cage at the nipple line. For the greatest accuracy at least two measurements should be taken, one during inspiration and the other during expiration, and the average recorded. The chest size is important mainly in comparison to its relationship with the head circumference. Marked disproportions are always recorded, because most are caused by abnormal head growth, although some may be the result of altered chest shape, such as barrel chest or pigeon chest.

As the child grows, the chest normally increases in the transverse direction, causing the anteroposterior diameter to be less than the lateral diameter. In an older child the characteristic barrel shape of an infant’s chest is a significant sign of chronic obstructive lung disease, such as asthma or cystic fibrosis. Other variations in shape that are usually variants of the normal configuration are pigeon breast, or pectus carinatum, in which the sternum protrudes outward, increasing the anteroposterior diameter, and funnel chest, or pectus excavatum, in which the lower portion of the sternum is depressed. A severe depression may impair cardiac function, but in general neither condition causes pathologic dysfunction. However, these conditions often cause parents and children concern regarding acceptable physical appearance.

The doctor also notes the angle made by the lower costal margin and the sternum, which ordinarily is about 45 degrees. A larger angle is characteristic of lung diseases that also cause a barrel shape of the chest. A smaller angle may be a sign of malnutrition. As the rib cage is inspected, the junction of the ribs to the costal cartilage (costochondral junction) and sternum is noted. Normally the points of attachment are fairly smooth. Swellings or blunt knobs along either side of the sternum are known as the rachitic rosary and may indicate vitamin D deficiency. Another variation in shape that may either be normal or may suggest rickets (vitamin D deficiency) is Harrison’s groove, which appears as a depression or horizontal groove where the diaphragm leaves the chest wall. Usually marked flaring of the rib cage below the groove is an abnormal finding.

Body symmetry is always an important notation during inspection. Asymmetry in the chest may indicate serious underlying problems, such as cardiac enlargement (bulging on the left side of rib cage) or pulmonary dysfunction. However, asymmetry is most often a sign of scoliosis, lateral curvature of the spine. Asymmetry warrants further medical investigation.

Movement of the chest wall is noted. It should be symmetric bilaterally and coordinated with breathing. During inspiration the chest rises and expands, the diaphragm descends, and the costal angle increases. During expiration the chest falls and decreases in size, the diaphragm rises, and the costal angle narrows. In children under 6 or 7 years of age, respiratory movement is principally abdominal or diaphragmatic. In older children, particularly females, respirations are chiefly thoracic. In either type the chest and abdomen should rise and fall together.

Any asymmetry of movement is an important pathologic sign and is reported. Decreased movement on one side of the chest may indicate pneumonia, pneumothorax, atelectasis, or an obstructive foreign body. Marked retraction of muscles either between the ribs (intercostal), above the sternum (suprasternal), or above the clavicles (supraclavicular) is always noted, because it is a sign of respiratory difficulty.

         Peculiarity of the chest iewborn The newborn’s chest is almost circular because the anteroposterior and lateral diameters are equal. The ribs are very flexible, and slight intercostal retractions are normally seen on inspiration. The xiphoid process is commonly visible as a small protrusion at the end of the sternum. The sternum is generally raised and slightly curved.

 

Physiologicoanatomical peculiarities of the head in the newborn

 

General observation of the contour of the head is important, since molding occurs in almost all vaginal deliveries. In a vertex delivery the head is usually flattened at the forehead, with the apex rising and forming a point at the end of the parietal bones and the posterior skull or occiput dropping abruptly. The usual more oval contour of the head is apparent by 1 to 2 days after birth. The change in shape occurs because the bones of the cranium are not fused, allowing for overlapping of the edges of these bones to accommodate to the size of the birth canal during delivery. Such molding does not occur in infants born by cesarean section.

Six bones – the frontal, occipital, two parietals, and two temporals – comprise the cranium. Between the junctions of these bones are bands of connective tissue called sutures. At the junction of the sutures are wider spaces of unossified membranous tissue called fontanels. The two most prominent fontanels in infants are the anterior fontanel formed by the junction of the sagittal, coronal, and frontal sutures, and the posterior fontanel, formed by the junction of the sagittal and lambdoidal sutures (Fig. 7.3). One can easily remember the location of the sutures because the coronal suture “crowns” the head and the sagittal suture “separates” the head.

Two other fontanels – the sphenoidal and mastoid – are normally present but are not usually palpable. An additional fontanel located between the anterior and posterior fontanels along the sagittal suture is found in some normal neonates but is also found in some infants with Down’s syndrome.

The presence of this sagittal or parietal fontanel is always recorded.

The doctor palpates the skull for all patent sutures and fontanels, noting size, shape, molding, or abnormal closure. The sutures are felt as cracks between the skull bones, and the fontanels are felt as wider “soft spots” at the junction of the sutures. These are palpated by using the tip of the index finger and running it along the ends of the bones.

 

 

The fontanel of great size is assessed between middle points of the opposite sides of the fontanel (between the frontal and parietal bones).

The anterior fontanel is diamond-shaped, measuring 2.5 cm (1 inch) by 3 cm (about 1.5 inches). The posterior fontanel is triangular-shaped, measuring between 0.5 and 1 cm (less than l/2 inch) at its widest part. It is easily located by following the sagittal suture toward the occiput.

The fontanels should feel flat, firm, and well-demarcated against the bony edges of the skull. Frequently pulsations are visible at the anterior fontanel. Coughing, crying, or lying down may temporarily cause the fontanels to bulge and become more taut. However, a widened, tense, bulging fontanel is a sign of increased intracranial pressure. A markedly sunken, depressed fontanel is an indication of dehydration. Such findings are recorded and reported to the physician.

The doctor also palpates the skull for any unusual masses or prominences, particularly those resulting from birth trauma, such as caput succedaneum or cephalhematoma. Because of the pliability of the skull, exerting pressure at the margin of the parietal and occipital bones along the lambdoid suture may produce a snapping sensation similar to the identation of a Ping-Pong ball. This phenomenon is known as physiologic craniotabes and, although usually a normal finding, can be indicative of hydrocephalus, syphilis and ricket.

The degree of the head control in the neonate is also assessed. Although the head lag is normal in the newborn, the degree of the ability to control the head in certain positions should be recognized. If the supine infant is pulled from the arms into a semi-Fowler’s position, a marked head lag and hyperextension are noted. However, as one continues to bring the infant forward into a sitting position, the infant attempts to control the head in an upright position. As the head falls forward onto the chest, many infants attempt to right it into the erect position. If the infant is held in ventral suspension, that is, held prone above and parallel to the examining surface, the infant holds his head in a straight line with the spinal column. When lying on the abdomen, the newborn has the ability to lift the head slightly, turning it from side to side. A marked head lag is seen in Down’s syndrome, hypoxic infants, and newborns with brain damage.

 

Examination of the spine

 

While the child is prone, the spine, extremities, joints, and muscles are inspected. However, they are also observed with the child sitting and standing.

The general curvature of the spine is noted. Normally the back of a newborn is rounded or C-shaped from the thoracic and pelvic curves. The development of the cervical and lumbar curves approximates the development of various motor skills, such as cervical curvature with the head control, and gives the older child the typical double-S curve.

Marked curvatures in posture are noted, Scoliosis, lateral curvature of the spine, is an important childhood problem, especially in females. Although scoliosis may be palpated as one feels along the spine and notes a sideways displacement, more objective tests include some aspects.

1.  With the child standing erect, clothed only in underpants (and bra if an older girl), he is observed from behind, noting asymmetry of the shoulders and hips.

2. With the child bending forward so that the back is parallel to the floor, he is observed from the side, noting asymmetry or prominence of the rib cage.

A slight limp, a crooked hemline, or complaints of a sore back are other signs and symptoms of scoliosis.

The hack, especially along the spine, is inspected for any tufts of hair, dimples, or discoloration. A small dimple usually with a tuft of hair called a pilonidal cyst may indicate an underlying spina bifida occulta. The nurse palpates the spine to identify each spiny process of the vertebrae or lack of them. Any masses, which may be meningoceles, evidence of tenderness, and swelling are noted.

Mobility of the vertebral column is easily assessed in most children because of their propensity for constant motion during the examination. However, mobility can be specifically tested for by asking the child to sit up from a prone position or to do a modified sit-up exercise. Maintaining a rigid straightness when performing these maneuvers is considered abnormal and may indicate central nervous system infection or irritation. However, some individuals who are unable to relax, despite normal skeletal function, may also retain a rigid posture.

Movement of the cervical spine is an important diagnostic sign for neurologic problems, such as meningitis. Normally movement of the head in all directions is effortless. Hyperextension of the neck and spine, called opisthotonos, which is accompanied by pain if the nurse attempts to flex the head, is always referred for immediate medical evaluation.

 

 

  

Examination of spinal  column

 

 

Examination of extremities. Each extremity is inspected for symmetry of length and size; any deviation is referred for orthopedic evaluation. The fingers and toes are counted to be certain of the normal number. This is so often taken for granted that an extra digit (polydactyly) or fusion of digits (syndactyly).

 The extremities are examined for symmetry, range of motion, and signs of malformation or trauma. The fingers and toes are counted, and supernumerary digits (polydactyly) or fusion of digits (syndactyly) is noted. A partial syndactyly between the second and third toes is a common variation seen in otherwise normal infants.

Range of motion of the extremities should be observed throughout the entire examination. Hyperflexibility of joints is characteristic of Down’s syndrome. Eliciting the scarf sign may be helpful in identifying abnormal flexion of joints.

The fingernails are examined, and the nail beds should be pink, although slight blueness is evident in acrocyanosis. Persistent cyanosis of the nail beds indicates anoxia or vasoconstriction. Yellowing of the nail beds may indicate intrauterine distress, postmaturity, or hemolytic disease. Short or absent nails are seen in premature infants, whereas long nails, extending over the ends of the fingers, are characteristic of postmature newborns.

The palms of the hands should have the usual creases. A transverse palmar crease, called a simian crease, may suggest Down’s syndrome. The full-term newborn usually has creases on the anterior two thirds of the sole of the foot. In postmature infants the sole is covered with deep creases, and in premature infants the creases are absent. The soles of the feet are flat with prominent fat pads.

The extremities are inspected for evidence of fractures from birth trauma. The clavicle, humerus, and femur are most commonly involved. Limitation of movement, visible deformity, asymmetry of reflexes, and malposition of the site are signs suggestive of a fracture. The hips are rotated to identify a congenital dislocation.

Muscle tone is also assessed. By attempting to extend a flexed extremity, the doctor determines if the tone is equal bilaterally. Extension of any extremity is usually met with resistance, and, when released, the extremity will return to its previous flexed position. Hypotonia suggests some degree of hypoxia. Asymmetric muscle tone may indicate a degree of paralysis from the brain damage. Failure to move the lower limbs suggests a spinal cord lesion or injury. Tremors, twitches, and myoclonic jerks characterize neonatal seizures or may be indicative of neonatal narcotic withdrawal syndrome. Quivering or momentary tremors are usually normal. Physiological hypertonus of flexed-muscle disappear by 2 month in infant.

 

 

Examination of muscles tonus

 

     

Passive motion of the cubitus

 

 

Examination of muscle strength

 

Semiotics of the bone and muscle system lesions. Care for children with the diseases of bones and muscles.

Rickets

 

It is one of the most frequent deficiency diseases in infants, the main clinical symptoms of which are changes of the skeleton.

Etiology of rickets: the deficiency of vitamin D (D₂-ergocalciferol, D₃-cholecalciferol).

Clinical symptom.

         Head

a)     delayed closure of fontanels;

b) deformed shape of the head:

1. the skull is flat and depressed toward middle;

2. a prominence of frontal bones = “Olympic forehead”;

3. a prominence to the sides of the parietal bones = “caput quadratum”;

4. prominence of parietal bones and depression toward middle the suture between these bones = caput natiforme;

5. craniotabes (softening of cranial bones);

6. softening of cranial bones may lead to enlarging all the sizes of the head that is called macrocephalia).

                  Chest:

a) rachitic rosary (enlargement of costochondral junction of ribs);

b)    Harrison’s groove (horizontal depression in the lower portion of the rib cage);

c)     pigeon chest (depression to the middle of lower part of sternum);

                   Spine:

         kyphosis, scoliosis, lordosis.

                   Extremities:

a)     bowing of the arms and legs;

b)    knock-knee (X-shaped legs);

c)     saber shins;

d)    instability of hip joints;

e)     pelvic deformity;

f)      enlargement of epiphysis at the ends of the long bones.

                           

varus deformity (X-shaped legs)                            valgus deformity(X-shaped legs)

Teeth:

a)     delayed calcification, especially of permanent teeth;

b)    maleruption of teeth.

Abdomen: potbelly, constipation.

Rachitis tetany: seizures.

         Symptoms of rickets are usually found in children less than 2 years of age, some of them in an reduced form can persist for the whole life.

 

Laboratory diagnostics

1.     Quantity of Ca²⁺ in the blood serum (normally: 2.25 – 2.5 mM/l).

2.     Sulkovich test (test for founding calcium in urine).

 

Nursing care plan

1.     Encourage foods rich in vitamin D, especially fortified cow’s milk

2.      In brest-fed infants is encourage use of vitamin D supplements if maternal diet inadequate or infant exposed to minimal sunlight.

3.     Emphasize the importance of exposure to the sun as the source of vit. D.

4.     In caring for the child with rickets:

a)     maintain a good body alignment;

b)    reposition frequently to prevent decubiti and respiratory infection;

c)     handle the child very gently and minimally;

d)    instate seizure precautions;

e)     have 10 % calcium gluconate available in case of tetany;

f)      if prescribed, supervise proper use of orthopedic splints or braces.

 

Scoliosis

         A lateral curvature of the is spine usually associated with a rotary deformity.

Tests for scoliosis:

1.     Have the child stand erect, observe from behind and note asymmetry of the shoulders and hips. (Normally shoulders, scapula, and iliac crests are symmetric).

2.     Have the child bend forward at the waist until the back is parallel to the floor, observe from side and note asymmetry or prominence of rib cage.

         Other signs of scoliosis include a slight limp, a crooked hem or a waistline, complaint of backache.

 

 

 

 

 

The level of the inferior angle of the scapula (tests for scoliosis)

 

Congenital dislocation of the femur (hip)

Malformations of the hip with various degrees of deformity are present at birth.

Congenital displasia of the hip joint (acetabular displasia) – the mildest form, in which there is neither subluxatioor dislocation. The femoral head remains in the acetabulum.

In congenital hip subluxation the femoral head loses contact with the acetabulum and is displaced posteriorly and superiorly over the fibrocartilaginous rim. The femoral head remains in contact with the acetabulum, but a stretched capsule and ligamentum teres cause the head of the femur to be partially displaced.

In dislocation the femoral head loses contact with the acetabulum and is displaced posteriorly and superiorly over the fibrocartilaginous rim.

 

Clinical symptom

I. Dislocated or subluxated hip.

a)     Limitation in hip abduction;

b)    Unequal gluteal or leg folds;

c)     Unequal knee height (Allis or Galeazzi sign);

d)    Audible click on abduction (Ortolani sign) – if infant is under 4 weeks of age).

II. In older children.

a)     Affected leg shorter than the other.

b)    Telescoping or piston mobility of the joint (the head of the femur can be felt to move up and down in the buttock when the extended thigh is pushed first toward the child’s head and then pulled distally).

c)     Trendelenburg’s sign (when the child stands first on one foot and then on the other (holding onto a chair or someone’s hands) bearing weight on the affected hip, the pelvis tilts downward on the normal side instead of upward as it would with normal stability.

d)    Greater trochanter is prominent and appears above a line from the anterior superior iliac spine to the tuberosity of the ischium.

e)     Marked lordosis (bilateral dislocation).

f)      Waddling gait (bilateral dislocation).

 

Paraclinic diagnostic procedures

–                               Radiography.

–                               Sonography.

Child caring plan.

1.     Improve the means of transportation of the child.

2.     Devise the self-mobilization equipment.

3.     If prescribed, supervise a proper use of orthopedic splints or braces.

 

Achondroplasia

 

Congenital clubfoot

A common deformity in which the foot is twisted out of its normal shape or position.

It must be described according to position of the ankle and foot:

a) talipes varus is an inversion or a bending inward;

b) talipes valgus is an eversion or bending outward;

c) talipes equines is a plantar flexion, in which toes are lower than the heel;

d) talipes calcaneus is a dorsiflexion, in which toes are higher than the heel;

e) talipes equinovarus is a composite deformity, in which the foot is pointed downward and inward in varying degrees of severity.

It is important to determine if the deformity can be passively corrected or is fixed.

 

                                        

Platypodia                                                                Clubfoot                                 External rotation of foot

 

 

 

Osteomyelitis

 

 

Infection of the bone.

Manifestations of acute osteomyelitis

I. General:

a)     History of the trauma to the affected bone (frequent).

b)    Child appears very ill.

c)     Irritability.

d)    Restlessness.

e)     Elevated temperature.

f)      Rapid pulse.

g)     Dehydration.

II. Local:

a)     Tenderness.

b)    Increased warmth.

c)     Diffuse swelling over the involved bone.

d)    Involved extremity is painful, especially on movement.

e)     Involved extremity is held in semiflexion.

f)      Surrounding muscles are tense and resist to passive movement.

Paraclinic diagnostic procedures:

Radiography, tomography, scintigraphy, blood culture, WBC (white blood count), erythrocyte sedimentation rate.

 

Child care plan

1.     To administer antibiotics as prescribed, wound care, to maintain asepsis.

2.     To cleanse the area as ordered, including irrigation if prescribed.

3.     To apply appropriate medication and dress wound according to instructions.

4.     To maintain immobilization with positioning or devices such as casts, splints, traction.

5.     To ensure a nutrition diet.

6.     To maintain integrity and sterility of venous access.

 

Duchenne muscular dystrophy

Inherited disorder is characterized by gradual degeneration of muscle fibers.

I. Manifestations of duchenne muscular dystrophy

1.     Waddling gait.

2.     Marked lordosis.

3.     Frequent falls.

4.     Gower sign (the child turns onto side and abdomen, flexes knees to assume a kneeling position, then with knees extended gradually pushes torso to an upright position by “walking” the hands up the legs).

5.     Enlarged muscles (especially thighs and upper arms.

6.     It is felt feel unusually firm or woody on palpation.

II. Later signs

1.     Profound muscular atrophy.

2.     Mental deficiency (common), usually mild.

3.     Complications (contracture deformities of hips, knees and ankles, diffuse atrophy, obesity).

 

Paraclinic diagnostic procedures

4.     Serum enzyme measurements (creatine phosphokinase, aldolase, glutamicoxaloacetic transaminase).

5.     Electromyography.

6.     Muscle biopsy.

Nursing care plan:

1.     To help the child to develop self-help skills; to modify clothing for wheelchair wear, to fit over the contracted limbs; to help the family to modify the environment to facilitate self-help.

2.     To carry out physical therapy program.

3.     To help the family to acquire the necessary equipment to promote mobility.

 

Muscles disorder syndromes

1.     Pain syndrome (myalgia).

2.     Syndrome of muscles atrophy.

3.     Syndrome of muscles hypotonia.

4.     Syndrome of muscles hypertonia.

5.     Syndrome of muscles dystonia.

6.     Syndrome of muscles hypertrophy.

7.     Syndrome of myotonia.

8.     Syndrome of myatonia.

9.     Syndrome of myasthenia.

10.                       Syndrome of damage.

11.                       Syndrome of congenital malformation.

12.                       Syndrome of tetraplegia.

13.                       Syndrome of tetraparesis.

14.                       Syndrome of hemiplegia.

15.                       Syndrome of paraplegia.

16.                       Syndrome of paraparesis.

17.                       Syndrome of hemiparesis.

 

Bone disorder syndromes

1.              Pain syndrome (ossalgia, artalgia).

2.              Syndrome of hyperplasia of bone tissue.

3.              Syndrome of osteomalacia (osteoporosis).

4.              Syndrome of bone inflammation.

5.              Syndrome of joint inflammation.

6.              Syndrome of contracture.

7.              Syndrome of congenital malformation.

8.              Syndrome of bone damage.

 

Congenital Muscular Dystrophy 

Background

In 1903, Batten described 3 children who had proximal muscle weakness from birth. Biopsy of their muscles showed evidence of chronic myopathy without distinguishing characteristics. In 1908, Howard coined the term congenital muscular dystrophy (CMD) when he described another infant with similar features. Ullrich first described the combination of joint hyperlaxity and proximal contractures in 1930 in the German literature; this was the first case of what is now known as Ullrich congenital muscular dystrophy.

In 1960, Fukuyama et al described a common congenital muscular dystrophy in Japan that always had features of muscular dystrophy and brain pathology.Other diseases involving the muscle, eye, and brain were subsequently described: a Finnish variant (originally called muscle-eye-brain disease and Walker-Warburg syndrome. As has become clear with molecular genetics, all of these CMDs are likely caused by a similar molecular pathologic event, abnormal glycosylation of α –dystroglycan.

In general, CMDs are autosomal recessive diseases resulting in severe proximal weakness at birth (or within the first 12 mo of life) that is either slowly progressive or nonprogressive. Contractures are common, and CNS abnormalities can occur. Muscle biopsy shows signs of dystrophy, including a marked increase in endomysial and perimysial connective tissue; variability in fiber size with small, round fibers; immature muscle fibers; and (uncommonly) necrotic muscle fibers. No distinguishing features are present in muscle biopsy specimens, differentiating these disorders from the congenital myopathies.

Classifications of congenital muscular dystrophy

Several authors of review articles have proposed classifications for the congenital muscular dystrophies. In 2011, Sparks and Escolar suggested the following scheme:

• Defects of structural proteins

• Merosin deficient CMD (MDC1A); Laminin α 2

• UCMD1; Collagen 6A1

• UCMD2; Collagen 6A2

• UCMD3; Collagen 6A3

• Integrin α 7-deficiencient CMD; Integrin α 7

• CMD with epidermolysis bullosa; Plectin

• Defects of glycosylation Walker-Walburg syndrome

• Muscle-eye brain disease

• Fukuyama CMD; Fukutin

• CMD with muscle hypertrophy; Fukutin-related protein

• CMD with severe intellectual impairment and abnormal glycosylation; LARGE

• Proteins of the endoplasmic reticulum and nucleus

• Rigid spine syndrome; Selenoprotein N, 1

• LMNA-deficient CMD; Laminin A/C

The OMIM classification of defects of glycosylation is as follows:

• Muscular dystrophy-dystroglycanopathy A1 (MDDGA1 ) – POMT1 mutation

• MDDGA2 – POMT2 mutation

• MDDGA3 – POMGNT1 mutation

• MDDGA4 – Fukutin mutation

• MDDGA5 – FKRP mutation

• MDDGA6 – LARGE mutation

Genetic features

Only the muscular dystrophies with known genetic mutations are discussed in more detail later in this article. Several rare forms of congenital muscular dystrophy are not discussed in this article because of the lack of precise molecular and/or genetic information. The diagnosis of congenital muscular dystrophy is now based on clinical findings, muscle biopsy results, and genetic information.

Pathophysiology

The pathophysiology of the congenital muscular dystrophies depends on the specific genetic defect for each of the dystrophies and is discussed with each of the congenital muscular dystrophies below.

Epidemiology

Frequency

International

In Japan, Fukuyama congenital muscular dystrophy is fairly common. It is approximately 50% as common as Duchenne muscular dystrophy. The estimated prevalence is approximately 7-12 cases per 100,000 children. In Italy, the prevalence of all congenital muscular dystrophies has been estimated to be 4.7 cases per 100,000 children, while in Sweden the incidence is estimated at 6.3 cases per 100,000 births. Only about 25-50% of patients with CMD have an identifiable genetic mutation.

Mortality/Morbidity

• Morbidity and mortality rates depend on the type of congenital muscular dystrophy.

• The major causes of morbidity and mortality are related to respiratory insufficiency, bulbar and limb weakness, contractures, seizures, ocular pathology, and mental retardation and associated brain pathology.

• Some children die in infancy, whereas others can live into adulthood with only minimal disability.

Race

No racial predilection is present.

Sex

These autosomal recessive diseases affect both sexes equally.

Age

Patients with congenital muscular dystrophy present at birth or within the first year of life.

 

Congenital Myopathies 

Background

The first report of a congenital myopathy was in 1956, when a patient with central core disease (CCD) was described. Since that time, other myopathies have been defined as congenital myopathies, which have the following characteristics:

• Onset in early life with hypotonia, hyporeflexia, generalized weakness that is more often proximal than distal, and poor muscle bulk

• Often with dysmorphic features that may be secondary to the weakness

• Relatively nonprogressive

• Hereditary

• Unique morphological features on histochemical or ultrastructural examination of the muscle biopsy sample that originate within the myofiber

Hypotonia is the clinical hallmark of congenital myopathies. It presents in the neonatal period as head lag; lack of flexion of the hips, knees, and elbows; external rotation of the hips; diffuse weakness in facial, limb, and axial muscles; and reduced muscle mass.

The above features do not apply to all cases of congenital myopathy. Some cases have been reported as adult onset or as a progressive course. Some of the morphological alterations are not disease specific but are seen in various congenital myopathies or in other myopathic or nonmyopathic conditions.

A recent review articledivided the congenital myopathies based on genetic and morphological features into 4 main groups.

• Myopathies with protein accumulation

• Nemaline myopathy

• Myosin storage myopathy

• Cap disease

• Reducing body myopathy

• Myopathies with cores

• Central core disease

• Core-rod myopathy

• Multiminicore disease

• Myopathies with central nuclei

• Myotubular myopathy

• Centronuclear myopathy

• Myopathies with fiber size variation

• Congenital fiber type disproportion

With the advent of improved techniques such as electron microscopy, enzyme histochemistry, immunocytochemistry, and molecular genetics, the etiologies of many congenital myopathies are now well defined. This article focuses on the diseases with known mutations. The numerous rare congenital myopathies distinguished primarily based on a unique morphological feature on muscle biopsy are briefly discussed below (see Rare congenital myopathies).

Pathophysiology

In the common, well-described congenital myopathies, mutations have been identified in genes that encode for muscle proteins. The loss or dysfunction of these proteins presumably leads to the specific morphological feature on muscle biopsy samples and to the clinical muscle disease. The specific pathogenesis for each congenital myopathy is discussed below.

The same principle presumably leads to the morphological features determined by muscle biopsy in congenital myopathies whose genetic defects are not yet known.

Epidemiology

Frequency

International

The true incidence of congenital myopathies is unknown. In a series of 250 infants with neonatal hypotonia described by Fardeau and Tome, muscle biopsy performed before age 2 months revealed that only 14% had a congenital myopathy. CNS disease is the most common cause of congenital hypotonia.

The same authors documented 180 cases of congenital myopathy over 20 years. The types were as follows:

• Nemaline rod myopathy (20%)

• Central core disease (16%)

• Centronuclear myopathy (14%)

• Multiminicore myopathy (10%)

• Congenital fiber-type disproportion or type 1 fiber predominance (21%)

• Six other miscellaneous congenital myopathies (19%)

Mortality/Morbidity

Associated morbidity and mortality rates have considerable variability.

• Some patients die within the neonatal period, while others can have a normal life span.

• Cardiopulmonary compromise is the most common cause of death.

• Other complications include skeletal deformities and malignant hyperthermia.

Sex

• Both sexes are affected equally in most congenital myopathies since inheritance is usually autosomal recessive or autosomal dominant.

• In X-linked forms, boys are affected almost exclusively, although occasional female carriers with clinical manifestations have been described.

Age

Congenital myopathies usually present in the neonatal period but can also present later in life (even into adulthood).

 

Infantile Scoliosis 

Background

The term scoliosis is derived from the Greek word skol, meaning “twists and turns” and refers to a sideward (right or left) curve in the spine. Scoliosis is not a simple curve to one side but, in fact, is a more complex, 3-dimensional deformity that often develops in childhood. See images below.

Recent studies

In a retrospective study of the treatment of patients with idiopathic infantile scoliosis, 31 consecutive patients (average age, 25 mo) with a primary diagnosis of idiopathic infantile scoliosis were reviewed. Treatment modalities included bracing, serial body casting, and vertical expandable prosthetic titanium rib (VEPTR). Of the 31 patients, 17 were treated with a brace, 9 of whom had curve progression and subsequently received other treatments. Of the 8 patients who responded to brace treatment, overall improvement was 51.2%. Patients who received body casts had a mean preoperative Cobb angle of 50.4º and had an average correction of 59.0%. Patients who were treated with VEPTR had a mean preoperative Cobb angle of 90º and had an average correction of 33.8%. The study results suggest that body casting is useful in cases of smaller, flexible spinal curves, and VEPTR is a viable alternative for larger curves.

Another retrospective case series, of magnetic resonance imaging (MRI) findings in patients with presumed infantile idiopathic scoliosis, reviewed the medical records of 54 patients. MRI revealed a neural axis abnormality in 7 (13%) of 54 patients who underwent MRI. Of these 7 patients, 5 (71.4%) required neurosurgical intervention. Tethered cord requiring surgical release was identified in 3 patients, Chiari malformation requiring surgical decompression was found in 2 patients, and a small nonoperative syrinx was found in 2 patients. The authors concluded that on the basis of these findings, close observation may be a reasonable alternative to an immediate screening MRI in patients presenting with presumed infantile idiopathic scoliosis and a curve greater than 20º.

A recent study reviewed the frequency of asymmetric lung perfusion and ventilation in children with congenital or infantile thoracic scoliosis before surgical treatment and the relationship between Cobb angle and asymmetry of lung function. The authors found that asymmetric ventilation and perfusion between the right and left lungs occurred in more than half of the children with severe congenital and infantile thoracic scoliosis, but the severity of lung function asymmetry did not relate to Cobb angle measurements. Asymmetry in lung function was influenced by deformity of the chest wall in multiple dimensions and could not be ascertained by chest radiographs alone.

History of the Procedure

Probably the oldest mention of scoliosis is in ancient Hindu mythology (3500 to 1800 BC), in which Krishna corrects the hunchback of one of his followers. Hippocrates (460 to 377 BC) wrote about scoliosis and devices to correct it. The term infantile scoliosis was first used by Harrenstein in 1930 and by James in 1951 in describing the clinical entity idiopathic infantile scoliosis.

Problem

The term infantile scoliosis is used specifically to describe scoliosis that occurs in children younger than 3 years. Other terms for scoliosis also depend on the age of onset, such as juvenile scoliosis, which occurs in children aged 4-9 years, and adolescent scoliosis, which occurs in those aged 10-18 years. These terms, however, are now being replaced by the broader terms early-onset scoliosis and late-onset scoliosis, depending on whether the scoliosis occurs before or after 5 years of age.

In 80% of cases of scoliosis, there is no obvious cause; this is termed idiopathic scoliosis. In the remaining 20% of cases, a definite cause can be found. These cases are divided into 2 types: nonstructural (functional) and structural scoliosis, which could be part of a well-recognized syndrome (syndromic scoliosis), congenital spinal column abnormalities (congenital scoliosis), neurologic disorders, and genetic conditions.

The syndromes that can produce congenital scoliosis are VATER syndrome (vertebral anomalies, anorectal anomalies, tracheo-esophageal fistula, and renal anomalies), VACTERL syndrome (vertebral anomalies, anorectal anomalies, tracheo-esophageal fistula, renal and vascular anomalies, and cardiac and limb defects), Jarcho-Levin syndrome, Klippel-Feil syndrome, Alagille syndrome, Wildervank syndrome, Goldenhar syndrome, Marfan syndrome, and MURCS association (M ü llerian, renal, cervicothoracic, and somite abnormalities).

The congenital anomalies of the vertebral spinal column include defects of segmentation (block vertebra, unilateral bar) and defects of formation (hemivertebra — fully segmented, semisegmented, incarcerated and nonsegmented, wedge vertebra). The neurologic deficits in congenital scoliosis may be secondary to the spinal deformity or may be associated with vertebral anomalies (spinal dysraphism — diastematomyelia, myelocele, myelomeningocele, meningocele). A higher incidence of idiopathic scoliosis has been reported in families of children with congenital scoliosis. Spondylocostal dysostosis (Jarcho-Levin syndrome) has a genetic etiology.

Epidemiology

Frequency

Infantile scoliosis is a rare condition, accounting for less than 1% of cases of idiopathic scoliosis in North America; in Europe, the rate is 4%.

Sex: Males account for 60% of the cases of early-onset scoliosis; 90% of the cases of early-onset scoliosis resolve spontaneously, but the other 10% of cases progress to a severe and disabling condition. Females constitute 90% of late-onset cases and need close monitoring to intervene at appropriate times.

Etiology

Although the exact cause of idiopathic infantile scoliosis is not known, hypotheses have been proposed on the basis of epidemiologic evidence:

• One theory holds that the mechanical factors during intrauterine life are responsible for the higher incidence of plagiocephaly, developmental dysplasia of the hip, and scoliosis on the same side of the body.

• A second hypothesis suggests multifactorial causes, including predisposing genetic factors that are either facilitated or inhibited by external factors such as defective motor development or collagen disorders, joint laxity, and nursing posture of the infant.

• Other associations include older mothers from poorer families, breech presentation, and premature and male low-birth-weight babies.

Pathophysiology

Most of the curves in the spine develop during the first year of life, and strong correlation has been found between the nursing posture of the infant and development of the curve. It is less common in the United States than in Europe, where babies are nursed in the supine position. Infants have a natural tendency to turn toward the right side, and because of plasticity of the infant’s axial skeleton, this can lead to development of plagiocephaly, bat ear on the right side, and curvature of the spine toward the left side.

Presentation

Infantile scoliosis usually is detected during the first year of life either by the parents or by the pediatrician during routine examination of the infant. Usually, a single, long, thoracic curve to the left is present; less often, a thoracic and lumbar double curve is noted. A child who is diagnosed with scoliosis requires a thorough clinical and radiologic examination to exclude any congenital, muscular, or neurologic causes.

Indications

There are 3 management options for infantile scoliosis: observation, orthosis, and operative. The decision when to use each of these is based on the rib-vertebral angle difference (RVAD), established by Mehta in 1972, as seen in the image below.The RVAD is a useful guide in distinguishing between resolving and progressive idiopathic infantile scoliosis.

The rib-vertebrae angle is measured by (1) drawing a line perpendicular to the middle of the upper or lower border of the apical vertebrae of the curve and then (2) measuring the angle this line makes with medial extension of another line drawn from the mid point of the head to the mid point of the neck of the rib, just medial to the beginning of the shaft of the rib. The difference between the right and the left side (concave and the convex side) is the RVAD.

The apical vertebra is the vertebra at the curve of the apex. If there are the same number of vertebrae between the superior and the inferior end vertebrae, there will be 2 apical vertebrae.

For scoliosis curves with an RVAD of less than 20°, observation every 4-6 months is sufficient. If the RVAD is more than 20° or if it is not flexible clinically (ie, curve cannot be corrected even slightly with different postures, especially lateral bending), then it is considered to be progressive until proven otherwise.

Management with orthosis is necessary when the curve is considered to be progressive or if a compensatory curve has developed. Various types of orthosis are available for children younger than 3 years. The most commonly used orthoses are the hinged Risser jacket; the plaster spinal jacket (Cotrel EDF [elongation, derotation, flexion] type) applied under anesthesia; the Milwaukee brace; and the Boston brace. The brace should be used for 23.5 hours a day and should be removed only for exercises and swimming. It needs to be used until skeletal maturity is attained, because curves usually do not progress after skeletal maturity; however, curves may progress in spite of using a brace.

Spinal deformity in scoliosis progresses during periods of peak growth velocity. The first spinal growth peak occurs at 2 years of age, and the second peak occurs during the prepubescent period.

Operation is usually an option only for children in older age groups (ie, around age 10 years), and segmental posterior wiring to 2 L-rods without fusion is preferable until combined posterior and anterior fusion can be done. These procedures, however, have been associated with complications in 50% of patients.

Because of advances in instrumentation, pedicle screw instrumentation can be performed for children with further growth potential. In these patients, a growing rod is used, which is associated with fewer complications than surgical fixation using L-rods. The disadvantage associated with the growing rod is that every 6 months the posterior aspect has to be opened to lengthen the rod, which increases the risk of infection; however, if the curve is severe or increases despite the use of orthosis, a short anterior and posterior fusion is recommended to prevent crankshaft phenomenon.

Relevant Anatomy

The spine is made up of 33 individual vertebrae that form a column. The spine is divided into 5 regions, starting from the top:

• Cervical – 7 vertebrae

• Thoracic – 12 vertebrae

• Lumbar – 5 vertebrae

• Sacrum – 5 vertebrae

• Coccyx – 4 vertebrae

The sacrum and coccyx are fused in the adult. The spine provides a protective function for the spinal cord; bears and distributes the weight of the body; provides an area for attachment of ligaments and muscles; and is the site for production of red blood cells. Together, all the vertebrae form a flexible structure providing mobility for the body to bend forward or sideward.

Each vertebra has a cushionlike fibrous structure called a disk, which acts like a shock absorber during movements of the spine. The disk is made up of a soft, jellylike central nucleus pulposus surrounded by a ring of fibrous tissue called an anulus, which is actually a strong ligament between 2 adjacent vertebrae.

Developmentally, the spine of the fetus is C-shaped, with concavity in the front (kyphotic) of the thoracic region; this is called the primary curve. Two secondary curves develop after birth, with concavity occurring anteriorly (lordosis); one of the secondary curves develops in the cervical region as the infant starts to hold up the neck, and the second curve develops in the lumbar region when the child starts to walk. Normally, there are no sideward (scoliosis) curves, so that the spine looks straight when viewed from behind or from the front.

 

Muscular Dystrophy 

History of the Procedure

Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. The disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations. See the image below.

The first historical account of MD was reported by Conte and Gioja in 1836.They described 2 brothers with progressive weakness starting at age 10 years. These boys later developed generalized weakness and hypertrophy of multiple muscle groups, which are now known to be characteristic of the milder Becker MD. At the time, however, many thought that Conte and Gioja described tuberculosis; thus, they did not achieve recognition for their discovery.

In 1852, Meryonreported in vivid details a family with 4 boys, all of whom were affected by significant muscle changes but had no central nervous system abnormality when examined at necropsy. Meryon subsequently wrote a comprehensive monograph on MD and even went on to suggest a sarcolemmal defect to be at the root of the disorder. He further suspected that the disorder is genetically transmitted through females and affects only males.

Guillaume Duchenne was a French neurologist who was already famous for his application of faradism (the use of electric currents to stimulate muscles and nerves) in the treatment of neurologic disorders when he wrote about his first case of MD.In 1868, he gave a comprehensive account of 13 patients with the disease, which he called “paralysie musculaire pseudo-hypertrophique.” Because Duchenne was already held in high esteem for his work in faradism and for his contributions to the understanding of muscle diseases, one of the most severe and classic forms of MD, Duchenne MD, now bears his name.

The advancement of molecular biology techniques illuminates the genetic basis underlying all MD: defects in the genetic code for dystrophin, a 427-kd skeletal muscle protein (Dp427). These defects result in the various manifestations commonly associated with MD, such as weakness and pseudohypertrophy. Dystrophin can also be found in cardiac smooth muscles and in the brain (accounting for the slight mental retardation associated with this disease).

Problem

Despite minor variations, all types of muscular dystrophy have in common progressive muscle weakness that tends to occur in a proximal-to-distal direction, although there are some rare distal myopathies that cause predominantly distal weakness. The decreasing muscle strength in those who are affected may compromise the patient’s ambulation potential and, eventually, cardiopulmonary function.

In addition, structural soft-tissue contractures and spinal deformities may develop from poor posturing caused by the progressive muscle weakness and imbalance, all of which can further compromise function and longevity. Equinovarus contractures start as flexible dynamic deformities and advance to rigid contractures. This altered anatomy prevents normal ambulation, proper shoe wear, and transfers (how patients can be picked up to transfer out of their chair).

Once wheelchair bound, patients with MDs tend to develop worsening contractures and rapidly progressive scoliosis. On average, for each 10° of thoracic scoliosis curvature, the forced vital capacity (FVC) decreases by 4%.In a patient with an already-weakened cardiopulmonary system, this decrease in FVC could rapidly become fatal.

The goal of orthopedic management is, therefore, to preserve or prolong patients’ ambulatory status for as long as possible. This goal can be achieved with soft-tissue releases for contractures and early stabilization of the spine.

Epidemiology

Frequency

United States

The incidence rates of muscular dystrophies vary depending on the specific type. Duchenne MD is the most common MD and is sex-linked, with an inheritance pattern of 1 case per 3500 live male births.One third of cases occurs as a result of spontaneous new mutations.Becker MD is the second most common form, with an incidence of 1 case per 30,000 live male births.Other types of MD are rare. For example, limb-girdle dystrophy occurs in only 1.3% of patients with MDs.

International

The incidence internationally is similar to that of the US for most of the dystrophies, except for the oculopharyngeal type, which is more common in French Canadians than in other groups.Distal MD tends to occur in Sweden.

Etiology

Classification of types of muscular dystrophy

The etiology of MD is an abnormality in the genetic code for specific muscle proteins.They all are classified according to the clinical phenotype, the pathology, and the mode of inheritance. The inheritance pattern includes the sex-linked, autosomal recessive, and autosomal dominant MDs. Within each group of heritable MDs (see below), several disorders exist. These are characterized by the clinical presentation and pathology.

Heritable MDs include the following:

• Sex-linked MDs

• Duchenne

• Becker

• Emery-Dreifuss

• Autosomal dominant MDs

• Facioscapulohumeral

• Distal

• Ocular

• Oculopharyngeal

• Autosomal recessive MD – limb-girdle form

Genetic defects and dystrophin

In the X-linked forms of MD, such as the Duchenne and Becker dystrophies, the defect is located on the short arm of the X chromosome.Hoffman and coworkers identified the locus of the defect in the Xp21 region, which includes approximately 2 million base pairs.The gene codes for Dp427, which is a component of the cytoskeleton of the cell membrane.

Dystrophin is distributed not only in skeletal muscle but also in smooth and cardiac muscles and in the brain. The large size of the dystrophin gene explains the ease at which spontaneous new mutations can occur, as in Duchenne MD. The large size also allows mistakes in protein synthesis to occur at multiple sites.

Defects that interfere with the translation reading frame or with the promoter sequence that initiates synthesis of dystrophin lead to an unstable, ineffective protein, as in Duchenne MD. Disruption of the translation process further down the sequence leads to production of proteins of lower molecular weight that, although present, are less active and result in the milder variety of Becker MD.

As with Duchenne MD, Emery-Dreifuss MD is a sex-linked recessive disorder, but its defect is localized to the long arm of the X chromosome at the q28 locus.Some authors, however, have cited case reports of similar findings in Emery-Dreifuss that were transmitted in an autosomal dominant pattern.However, this finding is more of an aberration than a normal observation in Emery-Dreifuss MD.

In autosomal recessive conditions such as limb-girdle MD, the genetic defect is localized to the 13q12 locus.

In the autosomal dominant facioscapulohumeral MD, the defect is at the 4q35 locus. In distal MD, it is at the 2q12-14 loci.

Pathophysiology

Multiple proteins are involved in the complex interactions of the muscle membrane and extracellular environment. For sarcolemmal stability, dystrophin and the dystrophin-associated glycoproteins (DAGs) are important elements.

The dystrophin gene is located on the short arm of chromosome X near the p21 locus and codes for the large protein Dp427, which contains 3685 amino acids. Dystrophin accounts for only approximately 0.002% of the proteins in striated muscle, but it has obvious importance in the maintenance of the muscle’s membrane integrity.Dystrophin aggregates as a homotetramer at the costomeres in skeletal muscles, as well as associates with actin at its N-terminus and the DAG complex at the C-terminus, forming a stable complex that interacts with laminin in the extracellular matrix. Lack of dystrophin leads to cellular instability at these links, with progressive leakage of intracellular components; this results in the high levels of creatine phosphokinase (CPK) noted on routine blood workup of patients with Duchenne MD.

Less-active forms of dystrophin may still function as a sarcolemmal anchor, but they may not be as effective a gateway regulator because they allow some leakage of intracellular substance. This is the classic Becker dystrophy. In both Duchenne and Becker MD, the muscle-cell unit gradually dies, and macrophages invade. Although the damage in MD is not reported to be immunologically mediated, class I human leukocyte antigens (HLAs) are found on the membrane of dystrophic muscles; this feature makes these muscles more susceptible to T-cell mediated attacks.

Selective monoclonal antibody hybridization was used to identify cytotoxic T cells as the invading macrophages; complement-activated membrane attack complexes have been identified in dystrophic muscles as well. Over time, the dead muscle shell is replaced by a fibrofatty infiltrate, which clinically appears as pseudohypertrophy of the muscle. The lack of functioning muscle units causes weakness and, eventually, contractures.

Other types of MDs are caused by alterations in the coding of one of the DAG complex proteins. The gene loci coding for each of the DAG complex proteins is located outside the X chromosomes. Gene defects in these protein products also lead to alterations in cellular permeability; however, because of the slightly different mechanism of action and because of the locations of these gene products within the body, there are other associated effects, such as those in ocular and limb-girdle type dystrophies.

Presentation

In Duchenne muscular dystrophy, unless a sibling has been previously affected to warrant a high index of suspicion, no abnormality is noted in the patient at birth, and manifestations of the muscle weakness do not begin until the child begins to walk. Three major time points for patients with Duchenne MD are when they begin to walk, when they lose their ability to ambulate, and when they die.

The child’s motor milestones may be at the upper limits of normal, or they may be slightly delayed. Some of the delays may be caused by inherent muscle weakness, but a component may stem from brain involvement. Although the association of intellectual impairment in MD has long been recognized, it was initially thought to be a result of limited educational opportunities.Psychometric studies have since revealed a definitively lower intelligence quotient (IQ) in patients with Duchenne MD despite equalization of educational opportunities.The average IQ in patients with Duchenne MD is 85 points, compared with 105 points in healthy populations, as determined by using the Wechsler Adult Intelligence Scale (WAIS).

In addition to mental deficits, another milestone delay is the patient’s age at ambulation. Children with Duchenne MD usually do not begin to walk until about age 18 months or later. In the Dubowitz study,74% of children with Duchenne MD manifested the disease by age 4 years. By age 5 years, awareness increases as the disease is manifested in all affected children when they experience difficulty with school-related activities (eg, getting to the bus, climbing stairs, reciprocal motions during activities).

Other early features include a gait abnormality, which classically is a waddling, wide-based gait with hyperlordosis of the lumbar spine and toe walking. The waddle is due to weakness in the gluteus maximus and gluteus medius muscles and the patient’s inability to support a single-leg stance. The child leans the body toward the other side to balance his or her center of gravity, and the motion is repeated with each step. Hip extensor weakness also results in a forward tilt of the pelvis, which translates to a hyperlordosis of the spine to maintain posture. The child then walks on his or her tiptoes because it is easier to stay vertical with an equinus foot position than on a flat foot, although no real tendo Achillis contracture exists at this early point.

Gradually, noticeable difficulty with step taking by the child is observed. Frequent falls without tripping or stumbling often occur and are described as the feet being swept away from under the child. The child then begins having problems getting up from the sitting or supine position, and he or she can rise to an upright stance only by manifesting the Gower sign (see below).

The Gower sign is a classic physical examination finding in MD and results from weakness in the child’s proximal hip muscles. To get up from a sitting or supine position, the child must first become prone on the elbows and knees. Next, the knees and elbows are extended to raise the body. Then, the hands and feet are gradually brought together to move the body’s center of gravity over the legs. At this point, the child may release one hand at a time and support it on the knee as he or she crawls up their legs to achieve an upright position. Although the Gower sign is a classic physical examination finding in Duchenne MD, it is by no means pathognomonic; other types of MD and disorders with proximal weakness may also cause this sign.

While still ambulatory, the child may have minimal deformities, including iliopsoas or tendo Achillis tightness. Mild scoliosis may be present if the child has an asymmetrical stance. Upper-extremity involvement rarely occurs in the beginning, although proximal arm muscle weakness may be evident on manual strength testing. When upper-extremity involvement manifests in later stages of Duchenne MD, it is symmetrical and, along with distal weakness, usually follows a rapid worsening of the child’s condition toward being wheelchair bound.

The second important phase in Duchenne MD is the loss of ambulation. This usually occurs between the ages of 7 and 13 years, with some patients becoming wheelchair bound by age 6 years. If children with MD are still ambulating after age 13 years, the diagnosis of Duchenne MD should be questioned, because these patients usually have Becker MD, the milder form of MD.

In Emery’s work,the 50th percentile for loss of ambulation in patients with Duchenne MD was age 8.5 years, with the 95th percentile at 11.9 years and the 99th percentile at 13.2 years. With the child’s loss of ambulation, there is usually a rapidly progressive course of muscle or tendon contractures and scoliosis. Most authors recommend posterior spinal fusion at 20° when the vital capacity is at its best,However, recent and other reports showed that respiratory function after spinal fusion did not significantly differ.The investigators concluded that respiratory failure resulted from muscle weakness and not the mechanical bellows of the chest cage, as was previously assumed.

Duchenne MD is a terminal disease in which death usually occurs by the third decade of life (mostly from cardiopulmonary compromise).The most common inciting event is a respiratory infection that progresses extremely rapidly despite its initial benign course. The resultant respiratory failure can easily occur from the underlying progressive nocturnal hypoventilation and hypoxia or from an acute cardiac insufficiency.

Other clinical findings in Duchenne MD include absent deep tendon reflexes in the upper extremities and patella (though the tendo Achillis reflex remains intact even in the later stages of this disease), pain in the calves with activity (< 30% of patients), pseudohypertrophy of the calf (60%), and macroglossia (30%). Cardiopulmonary involvement is present from the beginning of the disease stages, but the findings are not so clinically obvious. Electrocardiogram (ECG) tracings show right ventricular strain, tall R waves, deep Q waves, and inverted T waves.

Becker MD is similar to Duchenne MD, but because patients have some measure of functioning dystrophin, the manifestations of Becker MD occur later and are more mild. Patients tend to live past the fourth or fifth decades.

Emery-Dreifuss MD is an uncommon sex-linked dystrophy that presents with early contractures and cardiomyopathy in affected patients; the typical presentation involves tendo Achillis contractures, elbow flexion contractures, neck extension contractures, tightness of the lumbar paravertebral muscles, and cardiac abnormalities. Death may occur in the fourth or fifth decade as a result of first-degree atrioventricular (AV) block, a condition that is usually not present at the initial presentation of this disease.

Autosomal dominant distal MD is a rare form of MD and tends to become apparent in those aged 30 to 40 years; it is more commonly found in Sweden than in any other country and can cause a mild weakness that affects the arms before the legs.

Autosomal dominant facioscapulohumeral dystrophy causes facial and upper extremity weakness, and scapulothoracic motion is decreased, with winging of the scapula. This type of dystrophy can occur in both sexes and appear at any age, although it is more common in late adolescence.

Autosomal dominant oculopharyngeal dystrophy appears in those aged 20 to 30 years. The pharyngeal muscle involvement leads to dysarthria and dysphagia, which may necessitate palliative cricopharyngeal myotomy. The ocular component comprises ptosis, which may not become obvious until the patient’s mid life.

None of the autosomal dominant conditions significantly affects longevity.

Indications

The indications for any operative intervention in patients with muscular dystrophy include making a diagnosis by means of muscle biopsy or prolonging the patient’s function and/or ability to ambulate by specific procedures.

Until the advent of molecular biology techniques, muscle biopsy was the definitive test for diagnosing and confirming MDs. The histologic changes found in MDs depend on the stage of the disease and the muscle selected, of which the optimal site is the vastus lateralis, wherein a small lateral thigh incision is made.

Other indicated procedures include tendo Achillis and iliopsoas tenotomies for ease of fit into braces, tibialis posterior tendon transfers or tenotomies for more rigid equinovarus deformities of the foot, and segmental spinal stabilization for rapidly developing scoliosis (see Treatment, Surgical therapy).

Relevant Anatomy

The overall status of any patient must be considered before operative intervention is undertaken, and it becomes especially important in patients with muscle weakness, as in MD. For example, posterior spinal fusion to the pelvis straightens the scoliosis and allows better upright sitting balance. However, in patients with low vital capacity (< 30%), the risks of pulmonary complications are much higher, and these risks may tip the scale in favor of not operating on the scoliosis.

Other examples include equinus contractures in patients who are very weak; tendon lengthening itself is necessarily a weakening procedure on the involved muscle. If the patient has to maintain a rigid equinus foot position for stability of gait and the tendon is lengthened by surgery, the patient will not be able to ambulate.

After scoliosis surgery, patients may need additional pulmonary support and an extended stay in the intensive care unit (ICU). Preoperative tracheostomy is usually not any more effective in early mobilization of dystrophic patients; if necessary, this procedure is performed only after the patient’s condition has been stabilized and after a mold has been obtained for a hard brace with chest and abdominal cutouts.

Contraindications

In patients with muscular dystrophy, some relative contraindications to surgery include obesity, rapidly progressive muscle weakness, poor cardiopulmonary status, and a patient’s lack of motivation for participating in postoperative rehabilitation programs.

 

 

References

а) Basic

 

1. Manual of Propaedeutic Pediatrics / S.O. Nykytyuk, N.I. Balatska, N.B. Galyash, N.O. Lishchenko, O.Y. Nykytyuk – Ternopil: TSMU, 2005. – 468 pp.

2. Kapitan T. Propaedeutics of children’s diseases and nursing of the child : [Textbook for students of higher medical educational institutions] ; Fourth edition, updated and translated in English / T. Kapitan – Vinnitsa: The State Cartographical Factory, 2010. – 808 pp.

3. Nelson Textbook of Pediatrics /edited by Richard E. Behrman, Robert M. Kliegman; senior editor, Waldo E. Nelson – 19^th ed. – W.B.Saunders Company, 2011. – 2680 p.

 

b) Additional

1.  www.bookfinder.com/author/american-academy-of-pediatrics 

2. www.emedicine.medscape.com

3. http://www.nlm.nih.gov/medlineplus/medlineplus.html