Dystrophic Epidermolysis Bullosa

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-old male. Keywords: blister; dystrophic epidermolysis bullosa; epidermolysis bullosa; knee disarticulation; surgery.

Figure 1A-B. Multiple vesicles and bullae with erosions and hemorrhagic crusts measuring approximately 0.5x0.5 cm to 3x5 cm over back. Ruptured blisters are covered with dressing. Hypopigmented areas seen at the sites where previous lesions have healed.; Crusts over few lesions on left shoulder, arm and abdomen with hypopigmentation over areas of previously healed lesions.

Figure 2.. Right leg with Illizarov prior to below knee disarticulation. His grade IIIC fracture of middle one-third of both bones of right leg was managed with Illizarov and K-wire. Bilateral feet without nails since birth. Few crusted lesions following blister rupture along with hypopigmented areas at previously healed lesions.