Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

Epidermolytic ichthyosis (EI; MIM 113800), previously named bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling and easily breaking blisters that become less frequent later in life while hyperkeratosis increases.¹ EI is caused by dominant mutations in either KRT1 or KRT10, encoding keratin 1 (K1) and keratin 10 (K10), respectively.¹ Usually, mutations are missense substitutions into the highly conserved α-helical rod domains of the proteins.^2,3 However, three inbred pedigrees in which EI is transmitted as a recessive trait due to KRT10 null mutations have been described.^4-6