Dystrophic Epidermolysis Bullosa

  • Randhir Sagar Yadav Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University, Kathmandu, Nepal https://orcid.org/0000-0003-4075-3544
  • Amar Jayswal Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University, Kathmandu, Nepal https://orcid.org/0000-0002-7365-9864
  • Shumneva Shrestha Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University, Kathmandu, Nepal https://orcid.org/0000-0001-7368-7884
  • Sanjay Kumar Gupta Department of General Practice and Emergency Medicine, Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University, Kathmandu, Nepal
  • Upama Paudel Department of Dermatology, Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University, Kathmandu, Nepal

Abstract

 

Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of epidermolysis bullosa caused by mutation in type VII collagen, COL7A1. There are 14 subtypes of dystrophic epidermolysis bullosa and 400 mutations of COL7A1. Electron microscopy is the gold standard diagnostic test but expensive. Immunofluorescence study is a suitable diagnostic alternative. Trauma prevention along with supportive care is the mainstay of therapy. Squamous cell carcinoma develops at an early age in epidermolysis bullosa than other patients, particularly in recessive dystrophic epidermolysis bullosa subtypes. Regular follow up is imperative in detecting and preventing complications. Gene therapy, cell therapy and bone marrow transplantation are the emerging novel therapeutic innovations. Preventing possible skin and mucosal injury in patients requiring surgery should be worked on. Here, we present a case of dystrophic epidermolysis bullosa in a 26 year male.

Published
2018-10-31
How to Cite
Yadav, R., Jayswal, A., Shrestha, S., Gupta, S., & Paudel, U. (2018). Dystrophic Epidermolysis Bullosa. Journal of Nepal Medical Association, 56(213), 879-882. https://doi.org/10.31729/jnma.3791
Section
Case Reports