Epidermolytic Hyperkeratosis – Two Autosomal Recessive Cases from Nigeria

Abstract

Epidermolytic Hyperkeratosis (EHK) is a rare genodermatoses characterized by erythroderma, blistering and
erosions at birth and, hyperkeratosis in the subsequent months thereafter. It is a result of mutation in KRT1 or
KRT10 genes that encode keratin 1 or keratin 10 respectively.
EHK is transmitted as autosomal dominant trait, with up to 50% spontaneous mutations.A few cases acquired
by autosomal recessive inheritance have recently been identified. We present a six- year old boy with EHK
NPS1 type. In his family of six, two other siblings were also affected, while his first cousin parents and a sibling
were not.
Keywords: Lamellar ichthyosis, ectropion, stigma