Epidermolysis bullosa dystrophica with renal failure

ABSTRACT

Inherited epidermolysis bullosa (EB) is a family of diseases with blistering of skin and mucous membrane even with mild trauma. It has different subtypes based on the affected protein. Epidermolysis bullosa dystrophica (EBD) is associated with mutations in the COL7A1 gene encoding type VII collagen leading to the fragility of skin and mucosal membranes. EBD may be dominant or recessive. They should be distinguished because increased prevalence of SCC is associated with the recessive form. Here we are reporting a case at our hospital presented with various clinical features, history, clinical spectrum, renal biopsy and gene analysis giving appropriate diagnosis for the disorder. Treatment remains challenge. A multidisciplinary approach is needed for the effective management of EBD.