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.
Highlights
Epidermolysis bullosa (EB) is an inherited, rare genetic blistering disorder precipitated by mechanical stress.1 Based on level of tissue separation, there are four major classes of EB, namely simplex, junctional, dystrophic and Kindler syndrome.2 Dystrophic EB (DEB) results due to mutation in the type VII collagen, COL7A1.2 EB has an estimated prevalence of 8-10 per million live births where DEB accounts for 2-6 per million live births
A 26-year-old male was referred for further management of absent distal pulsation of right leg following road traffic accident which was unsalvageable
DEB has been classified depending on the extent of type VII collagen expression, clinical manifestations and pattern of inheritance
Summary
Epidermolysis bullosa (EB) is an inherited, rare genetic blistering disorder precipitated by mechanical stress.1 Based on level of tissue separation, there are four major classes of EB, namely simplex, junctional, dystrophic and Kindler syndrome.2 Dystrophic EB (DEB) results due to mutation in the type VII collagen, COL7A1.2 EB has an estimated prevalence of 8-10 per million live births where DEB accounts for 2-6 per million live births. There were multiple vesicles and bullae with erosions and hemorrhagic crusts present (Figure 1).
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