Open AccessEPIDERMOLYSIS BULLOSA DYSTROPHICA WITH RENAL FAILURE
Author(s) -
A. Bhavana,
N. Chakravarthy,
K. Uday kiran raja,
V. Sushitha,
A. Vijaya Mohan Rao
Publication year - 2022
Publication title -
paripex indian journal of research
Language(s) - English
DOI - 10.36106/paripex/2704674
Subject(s) - epidermolysis bullosa dystrophica , epidermolysis bullosa , dermatology , medicine , skin biopsy , pathology , biopsy
Inherited epidermolysis bullosa (EB) is a family of diseases with blistering of skin and mucous membrane even with mildtrauma. It has different subtypes based on the affected protein. Epidermolysis bullosa dystrophica (EBD) is associatedwith 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 associatedwith 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 remainschallenge. A multidisciplinary approach is needed for the effective management of EBD.