Öz
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.
Anahtar Kelimeler
Kaynakça
- Leverkus M, Ambach A, Hoefeld-Fegeler M, et al. Late- onset inversa recessive dystrophic epidermolysis bul- losa caused by glycine substitutions in collagen type VII. Br J Dermatol 2011 164(5):1104-6.
- van den Akker PC, Mellerio JE, Martinez AE, et al: The inversa type of recessive dystrophic epidermolysis bul- losa is caused by specific arginine and glycine substitu- tions in type VII collagen. J Med Genet 2011 48(3):160- 7.
- Hashimoto I, Anton-Lamprecht I, Hofbauer M: [Epider- molysis bullosa dystrophica inversa: report on 2 sis- ters]. Hautarzt 1976, 27(11):532-537.
- Hashimoto I, Schnyder UW, Anton-Lamprecht I, Gedde- Dahl T, Jr., Ward S: Ultrastructural studies in epider- molysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type). Arch Dermatol Res 1976, 256(2):137-50.
- Kahofer P, Bruckner-Tuderman L, Metze D, Lemmink H, Scheffer H, Smolle J. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA- J/F3 protein. Pediatr Dermatol 2003, 20(3):243-8.
- Gardella R, Castiglia D, Posteraro P, et al. Genotype- phenotype correlation in italian patients with dystro- phic epidermolysis bullosa. J Invest Dermatol 2002, 119(6):1456-62.
- Lin AN, Smith LT, Fine JD. Dystrophic epidermolysis bullosa inversa: report of two cases with further corre- lation between electron microscopic and immunofluo- rescence studies. J Am Acad Dermatol 1995;33(2 Pt 2):361-5.
- Breit R: [Epidermolysis bullosa dystrophica inversa, a review and case report]. Hautarzt 1979;30(9):471-7.
- Wright JT, Fine JD, Johnson LB, Steinmetz TT. Oral in- volvement of recessive dystrophic epidermolysis bul- losa inversa. Am J Med Genet 1993;47(8):1184-8.
- Gache Y, Pin D, Gagnoux-Palacios L, Carozzo C, Meneguzzi G. Correction of dog dystrophic epider- molysis bullosa by transplantation of genetically modified epidermal autografts. J Invest Dermatol 2011;12(3):312-5.
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
Kaynakça
- Leverkus M, Ambach A, Hoefeld-Fegeler M, et al. Late- onset inversa recessive dystrophic epidermolysis bul- losa caused by glycine substitutions in collagen type VII. Br J Dermatol 2011 164(5):1104-6.
- van den Akker PC, Mellerio JE, Martinez AE, et al: The inversa type of recessive dystrophic epidermolysis bul- losa is caused by specific arginine and glycine substitu- tions in type VII collagen. J Med Genet 2011 48(3):160- 7.
- Hashimoto I, Anton-Lamprecht I, Hofbauer M: [Epider- molysis bullosa dystrophica inversa: report on 2 sis- ters]. Hautarzt 1976, 27(11):532-537.
- Hashimoto I, Schnyder UW, Anton-Lamprecht I, Gedde- Dahl T, Jr., Ward S: Ultrastructural studies in epider- molysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type). Arch Dermatol Res 1976, 256(2):137-50.
- Kahofer P, Bruckner-Tuderman L, Metze D, Lemmink H, Scheffer H, Smolle J. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA- J/F3 protein. Pediatr Dermatol 2003, 20(3):243-8.
- Gardella R, Castiglia D, Posteraro P, et al. Genotype- phenotype correlation in italian patients with dystro- phic epidermolysis bullosa. J Invest Dermatol 2002, 119(6):1456-62.
- Lin AN, Smith LT, Fine JD. Dystrophic epidermolysis bullosa inversa: report of two cases with further corre- lation between electron microscopic and immunofluo- rescence studies. J Am Acad Dermatol 1995;33(2 Pt 2):361-5.
- Breit R: [Epidermolysis bullosa dystrophica inversa, a review and case report]. Hautarzt 1979;30(9):471-7.
- Wright JT, Fine JD, Johnson LB, Steinmetz TT. Oral in- volvement of recessive dystrophic epidermolysis bul- losa inversa. Am J Med Genet 1993;47(8):1184-8.
- Gache Y, Pin D, Gagnoux-Palacios L, Carozzo C, Meneguzzi G. Correction of dog dystrophic epider- molysis bullosa by transplantation of genetically modified epidermal autografts. J Invest Dermatol 2011;12(3):312-5.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2012 |
| Yayımlandığı Sayı | Yıl 2012 Cilt: 3 Sayı: 3 |