Epidermolysis bullosa dystrophica with renal failure
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Date
2022-01
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Society for Health and Advanced Research
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.
Description
Keywords
Epidermolysis bullosa dystrophica, collagen VII, Dominant DEB, Recessive DEB.
Citation
Bhavana A., Chakravarthy N., Raja K. Uday Kiran, Sushitha V., Rao,A. Vijaya Mohan. Epidermolysis bullosa dystrophica with renal failure. Paripex - Indian Journal Of Research. 2022 Jan; 11(1): 1-2