Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a heterogeneous disorder with mutations in at least nine different genes underlying various autosomal dominant and recessive subtypes thereof.(1) Making an accurate clinical and laboratory diagnosis in some of the less common forms of EBS can be challenging. A 9-year-old boy with first-cousin Pakistani parents presented with skin fragility from birth. He had scattered vesicles and bullae up to 1-2 cm in size on the limbs and trunk (Figure 1a and b). Blistering was made worse by hot weather. Individual blisters healed within 1-2 weeks leaving post-inflammatory hypopigmentation. This article is protected by copyright. All rights reserved.