Mehmet Salih GÜREL, Burcu IŞIK, Enver TURAN, Aslı Turgut ERDEMİR, Nurdan YURT

Epidermolysis bullosa dystrophica inversa: A case report

Epidermolizis bülloza (EB) mekanik travma sonrası bül gelişimi ile karakterize mekanobüllöz heterojen bir hastalık grubudur. 20nin 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.

Epidermolizis bülloza distrofika inversa: Olgu sunumu

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.

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1. Leverkus M, Ambach A, Hoefeld-Fegeler M, et al. Lateonset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII. Br J Dermatol 2011 164(5):1104-6.
2. van den Akker PC, Mellerio JE, Martinez AE, et al: The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. J Med Genet 2011 48(3):160- 7.
3. Hashimoto I, Anton-Lamprecht I, Hofbauer M: [Epidermolysis bullosa dystrophica inversa: report on 2 sisters]. Hautarzt 1976, 27(11):532-537.
4. Hashimoto I, Schnyder UW, Anton-Lamprecht I, Gedde- Dahl T, Jr., Ward S: Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type). Arch Dermatol Res 1976, 256(2):137-50.
5. Kahofer P, Bruckner-Tuderman L, Metze D, Lemmink H, Scheffer H, Smolle J. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDAJ/ F3 protein. Pediatr Dermatol 2003, 20(3):243-8.
6. Gardella R, Castiglia D, Posteraro P, et al. Genotypephenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2002, 119(6):1456-62.
7. Lin AN, Smith LT, Fine JD. Dystrophic epidermolysis bullosa inversa: report of two cases with further correlation between electron microscopic and immunofluorescence studies. J Am Acad Dermatol 1995;33(2 Pt 2):361-5.
8. Breit R: [Epidermolysis bullosa dystrophica inversa, a review and case report]. Hautarzt 1979;30(9):471-7.
9. Wright JT, Fine JD, Johnson LB, Steinmetz TT. Oral involvement of recessive dystrophic epidermolysis bullosa inversa. Am J Med Genet 1993;47(8):1184-8.
10. Gache Y, Pin D, Gagnoux-Palacios L, Carozzo C, Meneguzzi G. Correction of dog dystrophic epidermolysis bullosa by transplantation of genetically modified epidermal autografts. J Invest Dermatol 2011;12(3):312-5.