A MUTATION IN THE V1 DOMAIN OF KERATIN-5 CAUSES EPIDERMOLYSIS-BULLOSASIMPLEX WITH MOTTLED PIGMENTATION

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP; MIM n o 131960) is an autosomal dominant disorder characterized by skin blis tering at acral sites, punctate palmo-plantar hyperkeratoses, and mott led pigmentation of the trunk and proximal extremities, Histologically and ultrastructurally, the blistering in EBS-MP closely resembles tha t found in other EBS subtypes. This is consistent with a disorder of t he basal keratinocyte cytoskeleton, in which several groups have found disease-causing mutations within the central rod domains of keratins 5 and 14. We have identified a C --> T transition at base position 71 of K5 causing a P24L substitution in a sporadic case of EBS-MP, Recent ly, this same mutation was identified in two unrelated families with E BS-MP.