Plectin ( PLEC )-Related Intermediate Epidermolysis Bullosa Simplex without Extracutaneous Involvement with Response to Dapsone.

Abstract

Abstract: Plectinopathies, the spectrum of diseases caused by plectin gene ( PLEC ) mutations, have a wide range of manifestations, mostly extracutaneous, like pyloric atresia, muscular dystrophy, and cardiomyopathy, along with cutaneous tense blistering. Differently spliced exons give rise to various isoforms, which have definitive functions in different cell types and tissues. We report a case of a 14-year-old girl presenting with features of tense pruritic vesicles and bullae on extremities and trunk since childhood. She was diagnosed with intermediate epidermolysis bullosa simplex, having nonsense PLEC mutation at exon 1. The uniqueness of the case is the absence of extracutaneous manifestations and her dramatic response to dapsone.