ABSTRACT
Epidermolysis bullosa dystrophica (EBD) is an inherited disease of the structural proteins in the upper dermis, characterized by blister formation at the site of trauma followed by scarring. Skin fragility and blistering are the hallmarks of this disease. Cutaneous squamous cell carcinoma (cSCC) is a dreadful complication in the epidermolysis bullosa (EB) patients and common cause of death. The recent advances in distinct tumor microenvironment explain the aggressive nature of SCC in recessive Recessive Dystrophic Epidermolysis Bullosa (RDEB) patients and the use of collagen VII re-expression as a possible therapeutic measure. Regular follow-up is a must in preventing complications.
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.