Skin Disorders

A Puerto Rican patient with oculocutaneous albinism has prolonged bleeding after dental extraction. Pulmonary function tests show early restrictive lung disease.

A female infant develops vesicular lesions along the lines of Blaschko on her trunk and extremities in the first weeks of life. These evolve through verrucous and hyperpigmented stages. Her brother was lost to miscarriage.

A 6-month-old develops a sharply demarcated, eroded, eczematous rash around the mouth, anus, and on the hands and feet, with sparse hair, in the weeks following weaning from breastmilk. Stools have become loose. Serum zinc is low.

A child with sparse, fine, brittle scalp hair, eyebrows, and eyelashes has thickened and dystrophic nails with slow growth. Sweating is **normal**. Palms and soles show diffuse hyperkeratosis. Father and paternal grandfather had similar features.

A newborn develops extensive blistering and skin erosions after minimal friction. Skin biopsy shows separation at the dermal-epidermal junction.

A young boy has sparse hair, conical teeth, and heat intolerance. His mother reports he rarely sweats and had multiple febrile episodes as an infant.

A neonate is born with widespread blistering and superficial denudation of the skin, initially raising concern for epidermolysis bullosa. Over the following months, blistering subsides and is replaced by **thick, dark, ridged ("corrugated") hyperkeratosis** at flexures and over joints, with a foul odor. Skin biopsy shows the diagnostic pattern of **epidermolytic hyperkeratosis** with vacuolar degeneration of suprabasal keratinocytes and clumped keratin filaments.

A neonate is born with thick, plate-like armor of skin separated by deep red fissures over the entire body. There is **severe ectropion** (everted eyelids), **eclabium** (everted lips with a fixed open mouth), flattened nose and ears, and constrictive bands around the digits. Within the first hours of life the infant develops hypothermia, tachypnea, hypernatremia, and feeding failure from the catastrophic transepidermal fluid and electrolyte loss across the disrupted skin barrier.

A neonate is born with a **large scalp defect at the vertex** (aplasia cutis congenita) overlying a skull defect, **absent terminal phalanges of the toes** with stub-like digits, and a mottled vascular pattern on the skin (cutis marmorata). Echocardiogram shows a large ventricular septal defect with hypoplastic aortic arch.