Epidermolytic hyperkeratosis
Pronunciation: ep-i-DER-mo-lit-ik hy-per-ker-ə-TOH-sis
Rare autosomal dominant genodermatosis causing widespread blistering in neonates that evolves into hyperkeratotic lesions.
Full Definition
Epidermolytic hyperkeratosis, previously known as bullous congenital ichthyosiform erythroderma, is caused by mutations in keratin 1 or keratin 10 genes. Affected newborns present with generalized erythroderma and widespread blistering that gradually transforms into verrucous, hyperkeratotic plaques, particularly in flexural areas. The condition is associated with an increased risk of secondary bacterial infections and a distinctive odor due to bacterial overgrowth.
Usage
Usage note: The older term 'bullous congenital ichthyosiform erythroderma' is being replaced by 'epidermolytic hyperkeratosis' in current literature.
In Context
- "The infant's presentation of neonatal blistering followed by hyperkeratotic plaques was consistent with epidermolytic hyperkeratosis." — Genetic counseling report
- "Epidermolytic hyperkeratosis requires lifelong management of hyperkeratosis and prevention of secondary infections." — Treatment planning document