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The pediatric physical examination: Back, extremities, nervous system, skin, and lymph nodes

The pediatric physical examination: Back, extremities, nervous system, skin, and lymph nodes
Literature review current through: Jan 2024.
This topic last updated: May 15, 2023.

INTRODUCTION — Examination of the back, extremities, nervous system, skin, and lymph nodes in children will be reviewed here. Other aspects of the pediatric physical examination are discussed separately.

(See "The pediatric physical examination: General principles and standard measurements".)

(See "The pediatric physical examination: HEENT".)

(See "The pediatric physical examination: Chest and abdomen".)

(See "The pediatric physical examination: The perineum".)

BACK — The back examination is relatively standard for all ages. Spinal alignment, structural asymmetry, soft tissue masses, skin lesions, and points of tenderness should be noted. The vertebral column should be straight, with alignment along an imaginary vertical line from the midpoint of the occiput to the gluteal cleft. The level of the shoulders, scapulae, and pelvic rims should be symmetrical.

Any midline soft tissue lesion overlying the spine (eg, dimple, vascular anomaly, pigmented nevus, sacral hair tuft) should raise suspicion of an underlying neurologic defect [1,2]. Defects of the bony spine or of the overlying skin or soft tissue in an infant may indicate the presence of a meningocele, myelomeningocele, lipomeningocele, diastematomyelia, abscess, or tumor. With many of these lesions, the neurologic deficits may be sufficiently severe to lead to genitourinary tract, gastrointestinal tract, and/or lower extremity impairment. (See "Closed spinal dysraphism: Clinical manifestations, diagnosis, and management", section on 'Cutaneous'.)

Midline dimples in the skin overlying the coccyx generally are of no significance. Dimples above the gluteal cleft and on or above the flat part of the sacrum (ie, lumbosacral dermal sinus tracts) usually require neuroimaging and/or neurosurgical evaluation. (See "Closed spinal dysraphism: Clinical manifestations, diagnosis, and management", section on 'Evaluation and diagnosis'.)

Scoliosis in the neonate has great significance because it produces cosmetic problems and may be associated with visceral and/or neurologic dysfunction. (See "Adolescent idiopathic scoliosis: Clinical features, evaluation, and diagnosis", section on 'Congenital scoliosis'.)

Flattened buttocks and shortening of the cephalad extent of the gluteal cleft is the classic sign of sacral agenesis. The clinician should ask the caregiver about maternal type 1 diabetes and must order a lateral radiologic image of the lower spine to confirm the diagnosis (picture 1). (See "Infants of mothers with diabetes (IMD)", section on 'Congenital abnormalities'.)

Neonates and infants may have bluish macular skin lesions, most commonly located in the lumbar and sacral-gluteal area, known as congenital dermal melanocytosis (picture 2) [3]. These lesions are benign accumulations of elliptical melanocytes that occur most commonly in Asian and Black neonates and usually regress spontaneously after one to two years. (See "Skin lesions in the newborn and infant", section on 'Dermal melanocytosis'.)

All patients, particularly children in the preadolescent years, should undergo examination of the spine for scoliosis. Acquired scoliosis in preadolescents may herald important pathology (eg, spinal cord or vertebral bone tumors). On the other hand, idiopathic scoliosis, which is most common in adolescent females, can usually be followed with observation. (See "Adolescent idiopathic scoliosis: Clinical features, evaluation, and diagnosis", section on 'Clinical evaluation'.)

Proper examination requires unobstructed visualization of the back. The patient should be standing straight, but not rigid, with feet together and arms at the sides. Asymmetry of the back structures should be noted. For the second phase of the examination, the patient should be asked to bend over at the waist with legs straight, feet together, arms in a dependent position with the tips of the thumbs apposed, and head directed toward the floor in a relaxed position. The presence of a rib hump or abnormal curvature should be noted.

In addition to inspection for scoliosis, the spine should be examined for kyphosis and lordosis. A normal lumbar lordotic curvature, giving rise to a pot-bellied appearance, is found in most toddlers. Spontaneous resolution of the curvature occurs in almost all as they advance into early childhood. Mild lumbar lordosis and/or thoracic kyphosis require no intervention; more prominent forms of either deformity warrant thorough evaluation.

EXTREMITIES — The approach to examination of the extremities in the older child and adolescent is similar to that of the adult; examination of infants and younger children requires an understanding of anatomical limitations and acceptable variations in normal rotation and alignment.

Inspection — Examination should begin with careful inspection of the upper and lower extremities, looking for appropriate alignment, unusual masses or protuberances, joint deformities, missing or fused digits, and/or integument abnormalities. Attention should be paid to muscle mass. Adverse effects from maternal drugs, congenital defects, and chromosomal/genetic abnormalities may cause limb deformities and limb-length discrepancies. Bilateral malformation of the great toes (short and laterally deviated with absent or fused interphalangeal joint) is a characteristic finding of fibrodysplasia ossificans progressiva, a rare condition associated with progressive heterotopic ossification [4]. (See "Fibrodysplasia ossificans progressiva".)

Range of motion — Physical examination of the extremities includes determining the range of motion of all joints. Normal, full-term, newborn infants have significant flexion contractures of the upper and lower extremities, limiting the range of motion. Flexion, extension, abduction, adduction, supination, pronation, eversion, and inversion should be demonstrated within the normal anatomical limits of the particular joint. Variation from normal between paired joints and extremities also should be noted. For older children, the clinician should evaluate gait as well as the sitting and standing postures.

Palpation — Palpation of the extremities should be done to determine areas of tenderness, swelling, and increased or decreased temperature. Any one or all of these findings may be noted at sites of fracture, bone or joint disease, infection, and sprain.

Tone and strength — The tone and strength of the muscles should be examined. Patients with Duchenne muscular dystrophy, who have pseudohypertrophy of muscle groups, will (deceptively) appear to have adequate muscle mass, despite having decreased muscle tone and strength. (See "Duchenne and Becker muscular dystrophy: Clinical features and diagnosis".)

Lower extremity rotation and alignment — In-toeing is common in young children and may be caused by metatarsus adductus, internal tibial torsion, or increased femoral anteversion (figure 1). Out-toeing may be caused by physiologic external rotation contracture of the hip. These anatomic variations usually result from in utero positioning and correct spontaneously. (See "Approach to the child with in-toeing" and "Approach to the child with out-toeing".)

During the first seven years of life, lower extremity alignment goes through a predictable progression from bow-legs to knock-knees (figure 2). In most young children, bow-legs and knock-knees are physiologic, although pathologic causes must be considered (table 1A-B). (See "Approach to the child with bow-legs" and "Approach to the child with knock-knees".)

Gait — In the early months of walking, infants have a normal, wide-based gait; the legs often are rotated externally, and the feet are flat. The more normal gait of childhood develops with anatomical and neurologic maturity.

Toe walking, found in patients with cerebral palsy, may be a transient finding in some normal infants. Passive range of motion of the foot will help distinguish a tight heel cord that is limiting normal dorsiflexion from the full range of motion seen in the otherwise normal toe walker.

Possible causes of a limp in children include infection; neuromuscular or neurologic problems; primary bone, cartilage, ligament, and/or joint abnormalities; allergic and/or inflammatory processes; cancer; mass lesions; and foreign bodies (table 2). (See "Overview of the causes of limp in children" and "Evaluation of limp in children" and "Approach to hip pain in childhood", section on 'Common causes of hip pain in children'.)

Hip examination — Thorough examination of the hips for evidence of joint laxity or dislocation should be performed on every infant from shortly after birth until several months after independent walking. Findings compatible with developmental dysplasia of the hip (DDH) may be detected in the newborn period (table 3); abnormal signs present at that time may disappear. The clinical features of DDH are discussed separately. (See "Developmental dysplasia of the hip: Clinical features and diagnosis", section on 'Examination'.)

NEUROLOGIC EXAMINATION — Complete neurologic examination is warranted in children who present with or are found to have neurologic or neuromuscular abnormalities on examination. The neurologic examination for infants and children is discussed separately. (See "Neurologic examination of the newborn" and "Detailed neurologic assessment of infants and children".)

SKIN

Inspection and palpation — Examination of the skin requires careful inspection and palpation. When describing individual skin abnormalities, the examiner should describe color and size and whether the lesions, tumors, rashes, or defects are raised or flat, coalescent or isolated, well localized or diffuse, pruritic or nonpruritic. Terms such as papule, macule, pustule, vesicle, bullae, and nodule describe the appearance of rashes/lesions and have meaning for most health professionals. However, because skin lesions from different causes can have the same appearance, the clinician must be careful to make the correct diagnosis and recommend the correct treatment. The history and physical examination are of significant benefit in helping to differentiate among various disorders.

Essentially all lesions originating in the skin of children are benign. Lesions without an altered appearance of the epidermis, however, may not be easy to categorize. A mass that during palpation moves freely over the underlying fascia most likely is present in the subcutaneous tissue and should be considered benign. Malignancy is a possibility when the lesion is fixed to the underlying fascia or the examiner is unsure of what is being felt; an appropriate referral should be made in this circumstance [5].

Palpation of the skin may reveal rough, coarse, or dry areas in the region of the neck, knee, or elbow, which often are found in patients with atopic dermatitis. Large patches of coarse papular lesions palpable over the dorsal surfaces of the upper arms and thighs of an older child or adolescent may be compatible with hyperkeratosis pilaris. An elongated or patchy area of moist, erythematous, denuded, pruritic skin may be seen in patients with contact dermatitis caused by poison ivy. Pink, raised, pruritic lesions of various sizes and shapes, diffusely scattered over the body, are found in patients with urticaria.

Yellow discoloration — A yellow tint to the skin may be compatible with carotenemia or jaundice (hyperbilirubinemia).

Carotenemia — Carotenemia can be found in infants and toddlers whose diets consist of large amounts of strained yellow vegetables, particularly carrots and other carotenoid-containing fruits and vegetables. Carotenoids include alpha- and beta-carotene, and lycopene [6]. They are contained in carrots, sweet potatoes, mangoes, apricots, melons, tomatoes, peppers, and green leafy vegetables. In addition, beta-carotene is frequently used as a food-coloring agent.

Unlike jaundice, the skin color characteristically is more yellow-orange and more noticeable in areas with increased sweat glands (eg, the palms, soles, and nasolabial folds), sparing mucosal tissue and the sclerae [6]. Although diet is a major cause of carotenemia in childhood, some diseases, such as nephrosis, diabetes mellitus, anorexia nervosa, liver disease, and hypothyroidism, also can produce the condition [7].

Jaundice — Jaundice (picture 3) can be differentiated from carotenemia by the yellow-green skin color, yellow sclerae and mucous membranes, and the darkly colored urine and lightly colored stools. Collection of bile pigment accounts for the change in tissue color. Disorders giving rise to hyperbilirubinemia include neonatal (physiologic) jaundice, hemolytic anemias, hepatitis, enzyme defects, and biliary tree obstruction [8]. (See "Unconjugated hyperbilirubinemia in term and late preterm newborns: Screening" and "Evaluation of jaundice caused by unconjugated hyperbilirubinemia in children".)

Blue-gray discoloration — A bluish-gray discoloration of the skin may be a side effect of a drug or caused by the ingestion of a toxic substance. The parts of the body most often involved are the face, neck, and extremities [9].

Hypopigmented lesions — Hypopigmented areas often are benign but can be associated with various diseases [10]. (See "Acquired hypopigmentation disorders other than vitiligo" and "Vitiligo: Pathogenesis, clinical features, and diagnosis".)

Small hypopigmented or depigmented areas may be the result of postinflammatory lesions, pityriasis alba (picture 4), or tinea versicolor (picture 5).

Patients with neuroectodermal disorders, such as tuberous sclerosis complex, often have hypopigmented macules called ash leaf spots (picture 6).

Streaked areas of hypopigmentation characteristically are seen in pigmentary mosaicism (hypomelanosis of Ito) (picture 7). (See "Pigmentary mosaicism (hypomelanosis of Ito)".)

Vitiligo, an autosomal trait of variable penetrance, is a patterned loss of pigmentation secondary to the destruction of melanocytes (picture 8).

Albinism is an entity with total or nearly complete absence of pigmentation. (See "Oculocutaneous albinism".)

Chediak-Higashi syndrome is a rare autosomal recessive immunologic disorder with diffuse oculocutaneous hypopigmentation, leukocyte dysfunction, and recurrent infections. Patients with this disorder have fair skin, light blond hair, translucent irises, and renal, hematologic, and neurologic abnormalities [11]. (See "Chediak-Higashi syndrome".)

Hyperpigmented lesions — Hyperpigmented skin lesions may be clinically significant [10]. (See "Congenital and inherited hyperpigmentation disorders" and "Acquired hyperpigmentation disorders".)

Increased skin pigmentation owing to an excess of melanin may be localized or diffuse. Between one and four light brown macular lesions (cafe-au-lait spots) no greater than 0.5 to 1.0 cm at their largest diameter (depending on the patient's age) is a normal finding in many patients. Larger and more numerous cafe-au-lait spots can be seen in neurofibromatosis (picture 9), Bloom syndrome, ataxia telangiectasia, and several other syndromes [12]. (See "Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis" and "Bloom syndrome" and "Ataxia-telangiectasia".)

More darkly pigmented cutaneous tumors that appear anywhere on the body may be present at birth or appear years later. Large congenital and atypical nevi (usually developing during the second decade of life) may become melanoma. Melanomas are found rarely in infants and children; they have an irregular border with deeply pigmented or varied colored areas, may have ulcerations or satellite lesions, and have a tendency to grow [5,13]. (See "Congenital melanocytic nevi" and "Acquired melanocytic nevi (moles)", section on 'Atypical nevi' and "Screening for melanoma in adults and adolescents".)

Acquired nevi (not present at birth) are less than 1 cm in diameter, may be flat or slightly raised, are light brown to black in color, and have discrete regular borders. They develop during the first several decades of life and often eventually disappear. Though the vast majority of acquired nevi are harmless, certain changes, including rapid darkening, changes in size or borders, ulceration, itching, pain, or bleeding, indicate a need for biopsy and histologic evaluation [5]. (See "Acquired melanocytic nevi (moles)".)

Vascular lesions — Vascular lesions commonly seen in children may have clinical significance. The most common vascular lesion seen in infants is a pink nevus simplex (often called salmon patch, stork bite, or angel kiss (picture 10)) most often found on the nape of the neck, glabella, upper eyelids, forehead, and nasolabial folds. They require no treatment, and the vast majority fade within the first year of life [14]. (See "Vascular lesions in the newborn", section on 'Nevus simplex (macular stain)'.)

Infantile hemangiomas are benign vascular tumors composed of proliferating vascular endothelium (picture 11). Approximately 90 percent of these lesions undergo spontaneous involution by the time the child is nine years old. Hemangiomas of the face and/or lumbosacral region may be associated with extracutaneous manifestations and require additional evaluation. The clinical features, evaluation, and management of hemangiomas are discussed separately. (See "Infantile hemangiomas: Epidemiology, pathogenesis, clinical features, and complications" and "Infantile hemangiomas: Evaluation and diagnosis" and "Infantile hemangiomas: Management".)

Vascular lesions that neither proliferate nor involute and are caused by inborn errors of vascular morphogenesis are termed venous malformations [15]. They grow in proportion to the growth of the child and may require treatment. The facial port wine birthmark (picture 12A-B), the most frequently occurring example of this condition, often is associated with a neurocutaneous disorder (Sturge-Weber syndrome) (picture 13A-B). Port wine birthmark on one of the extremities may be associated with soft tissue hypertrophy and overgrowth of the underlying bone (Klippel-Trenaunay syndrome) [15,16]. (See "Sturge-Weber syndrome" and "Vascular lesions in the newborn", section on 'Klippel-Trenaunay syndrome'.)

The spider nevus, the best-known type of telangiectasia (also known as spider angioma, vascular spider, or nevus aranei), is a central vascular papule surrounded by symmetrically radiating branches [16]. Spider nevi appear most commonly on exposed areas of the face, upper trunk, arms, hands, and fingers. They are associated with liver disease, pregnancy, and estrogen therapy but also may occur in individuals without these conditions. In an observational study, 38 percent of 426 children (aged 1 to 15 years) without liver disease had ≥1 spider nevus; most had between one and four; only 7 children (1.6 percent) had ≥5 [17]. Among children with chronic liver disease, 16 of 34 (47 percent) had no spider nevi and four (12 percent) had ≥5 [17]. Most spider nevi persist indefinitely, although some may regress spontaneously [16]. When treatment is desired, treatment options include electrocoagulation and pulsed dye laser therapy [16,18].

Striae — Striae, or "stretch marks," also known as striae distensae, are linear depressions of the skin with epidermal atrophy. They are typically several centimeters long and 1 to 10 mm wide [19]. Initially pink or purple, striae later become white, translucent, and atrophic [13]. Striae occasionally may mimic physical abuse or nonaccidental injury [20]. (See "Striae distensae (stretch marks)".)

Striae tend to occur in areas of excessive stretching of the skin, eg, the abdomen, lower back, breasts, buttocks, and thighs. Individuals with rapid weight gain, females who are pregnant, and pubescent adolescents with rapid overall growth frequently develop striae. Striae also may occur in patients with anorexia nervosa [21]. Adolescents engaged in weight-lifting programs may develop striae of the shoulder and chest areas. Excessive adrenocortical activity (Cushing's disease), as well as prolonged use of oral and potent topical corticosteroids, can lead to striae formation (picture 14) [13].

Striae appearing during adolescence tend to regress spontaneously over time. Treatment may be warranted for striae that are persistent or cosmetically unacceptable. Treatment of striae is discussed separately. (See "Striae distensae (stretch marks)", section on 'Treatment'.)

Other skin lesions — Among the more common skin lesions seen in childhood are warts, pyogenic granulomata, and sebaceous (epidermal) cysts. The examiner should be suspicious of a potential underlying neurologic defect whenever a pigmented lesion (with or without a tuft of hair), a vascular lesion, a soft tissue mass, or a skin defect is found over the midline of the head, neck, or back.

Though cosmetically unattractive, warts on the hands and feet (picture 15A-C) do not always require treatment, and most regress spontaneously. Warts in the genital or perianal areas should alert the examiner to the possibility of sexual abuse. (See "Cutaneous warts (common, plantar, and flat warts)" and "Evaluation of sexual abuse in children and adolescents".)

Pyogenic granulomata are benign, generally small, raised papules appearing anywhere on the skin (picture 16) [5]. They bleed easily and are best treated with silver nitrate or electrocautery.

Sebaceous cysts occur at anatomical sites where hair is present. They should be surgically removed if unsightly or bothersome.

LYMPH NODES — The lymph node examination requires careful inspection and palpation. The approach should be symmetric and sequential (eg, beginning with simultaneous palpation of the occipital and posterior cervical nodes, followed by palpation of the anterior cervical nodes, preauricular and postauricular nodes, submental nodes, supraclavicular nodes, axillary nodes, and inguinal nodes (figure 3)).

Routine examination of the lymph nodes includes attention to size, consistency mobility, tenderness, adhesion to adjacent tissues, and the temperature and condition of the overlying skin [22]. Nodes that grow slowly generally are benign; those that grow rapidly and are rubbery, hard, nontender, and matted tend to be malignant. Enlarged, tender nodes with increased warmth to the overlying skin usually are infected. The causes of enlarged lymph nodes, the lymph node examination, and the approach to the child with enlarged lymph nodes are discussed in detail separately. (See "Peripheral lymphadenopathy in children: Evaluation and diagnostic approach" and "Peripheral lymphadenopathy in children: Etiology", section on 'General classification'.)

SUMMARY

Back – The back examination should include assessment of spinal alignment, structural asymmetry, soft tissue masses, skin lesions, and points of tenderness. Important findings may include (see 'Back' above):

Soft tissue lesions overlying the spine (possible neurologic defect)

Flattened buttocks, shortened gluteal cleft (possible sacral agenesis)

Scoliosis in preadolescents (possible pathology of the spine or spinal cord)

Extremities – Examination of the extremities should include assessment of alignment, symmetry, masses, joint deformities, missing or fused digits, skin abnormalities, muscle mass, tone, strength, range of motion, tenderness, and temperature. For older children, gait and sitting and standing postures also should be evaluated. (See 'Extremities' above.)

Neurologic examination – Children who present with or who are found to have neurologic or neuromuscular abnormalities on examination should undergo a complete neurologic assessment, including mental status, cranial nerves, muscle tone and strength, deep tendon reflexes, cerebellar function, and sensory responses. (See "Detailed neurologic assessment of infants and children".)

Skin

Examination of the skin requires careful inspection and palpation. Skin abnormalities should be described in terms of color, size, morphology (eg, papule, macule, pustule, vesicle, bulla, nodule), distribution, pattern (coalescent, isolated), and pruritus. (See 'Inspection and palpation' above.)

Hypopigmented skin lesions may be a sign of a number of disorders, including tuberous sclerosis complex (picture 6), vitiligo (picture 8), Chediak-Higashi syndrome. (See 'Hypopigmented lesions' above.)

Hyperpigmented skin lesions may be a sign of neurofibromatosis (picture 9), Bloom syndrome, ataxia telangiectasia, and several other syndromes. (See 'Hyperpigmented lesions' above.)

Vascular lesions may include macular stains (picture 10), infantile hemangiomas (picture 11), venous malformations, port wine birthmark (picture 12A-B), and spider nevi. (See 'Vascular lesions' above.)

Striae ("stretch marks") are linear depressions of the skin with epidermal atrophy. They tend to occur in areas of excessive stretching (eg, the abdomen, lower back, breasts, buttocks, and thighs). Striae appearing during adolescence tend to regress spontaneously over time. (See 'Striae' above.)

Lymph nodes – Examination of the lymph nodes requires symmetric and sequential inspection and palpation, with assessment of size, mobility, tenderness, adhesion to adjacent tissues, and condition of the overlying skin. (See 'Lymph nodes' above.)

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