Epidermolysis bullosa dystrophica inversa: A case report

Abstract

Epidermolysis bullosa (EB) is a heterogeneous group of genetically determined, mechanobullous disorders characterized by blister formation in response to mechanical trauma. Three major subgroups, simplex, junctional, and dystrophic EB, contain more than 20 genetically and clinically distinct subtypes. Epidermolysis bullosa dystrophica inversa (DEB-I), which is a rarely seen form of epidermolysis bullosa, shows autosomal recessive inheritance and it is characterized by bulla formation and erosions on flexural areas, frequently affecting the oral and esophageal mucosa. Blistering rash occurs in the newborn period, which in early childhood heals with atrophic scars. DEB-I is rarely seen in adults period, with only a few case reports in the literature. In the present case, we described a patient diagnosed with epidermolysis bullosa dystrophica inversa due to presence of typical clinical features and histopathological and immunofluorescence findings.

Keywords

• Blistering disorders, mechanobullous, epidermolysis bullosa

Epidermolizis bülloza distrofika inversa: Olgu sunumu

Öz

Epidermolizis bülloza (EB) mekanik travma sonrası bül gelişimi ile karakterize mekanobüllöz heterojen bir hastalık grubudur. 20\'nin üzerinde alt grup barındıran simpleks, jonksiyonel ve distrofik tip olmak üzere üç büyük alt gruba ayrılmaktadır. Epidermolizis bülloza distrofika inversa, epidermolizis büllozanın otozomal resesif geçişli fleksural alanlar, oral ve özofajiyal mukozada bül ve erozyonlarla karakterize nadir görülen bir tipidir. Bül ve erozyonlar sıklıkla yenidoğan döneminde görülür ve erken çocukluk döneminde atrofik skar bırakarak iyileşme gösterir. DEB-I erişkin dönemde nadiren görülür ve literatürde az sayıda olgu bildirimi mevcuttur. Bu makalede tipik klinik ve histopatolojik özellikleriyle epidermolizis bülloza distrofika inversa tanısı konmuş bir erişkin olgu sunulmaktadır.

Anahtar Kelimeler

• Büllü hastalıklar, mekanobüllöz, epidermolizis bülloza.

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