Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene

Abstract

Recurrent blister formation in children may be a sign of hereditary epidermolysis bullosa even if no salient family history can be elicited. In a case of a 5-year-old boy with recurrent occasional skin blistering, we diagnosed epidermolysis bullosa simplex and found a causative rare homozygous mutation in EXPH5. Precise molecular genetic analysis is a prerequisite for the accurate diagnosis and adequate counselling of affected families.