Epidermolytic hyperkeratosis

Published on 11/06/2015 by admin

Filed under Pediatrics

Last modified 22/04/2025

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Epidermolytic hyperkeratosis. Hyperkeratosis of the palms and deep fissures of the creases.

Epidermolytic hyperkeratosis. Thickened, malodorous skin on legs and ankles.

CLINICAL FEATURES

Epidermolytic hyperkeratosis is caused by mutations in the genes encoding for keratins K1 and K10.

Newborns have generalized erythroderma with widespread blisters and erosions. With time, blistering ceases and erythema decreases and is replaced by a generalized hyperkeratosis. Thick, warty, dirty-yellow scales develop on the acral areas. Palmoplantar keratoderma is associated with K1 defects. Staphylococcus aureus infection is common during the neonatal period and infancy. Malodor due to bacterial colonization of the skin is a major social problem. Hair, nails, mucosa and sweat glands are normal.

TREATMENT

In the newborn period fluid and electrolyte balance must be controlled and signs of bacterial sepsis should be evaluated and treated urgently.

Antibacterial cleansers and intermittent courses of systemic antibiotics are generally necessary. Keratolytic agents are often poorly tolerated and there is a risk for systemic absorption due to the large surface area treated and the abnormal skin barrier. Oral retinoids are effective, but must be used cautiously due to side effects. Treatment may begin at 1 mg/kg/day, but then titrated to the lowest effective dose.

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