Epidermolizis bülloza-pilor atrezili junctional tip

Kalıtsal -AR

Rudimanter kulaklar

Deri ve mukozalarda kırılganlık

En küçük travmalara bile duyarlılık

Deri ve mukozaları etkileyen vezikülobüllöz junctional patolojiler

Yenidoğan döneminde başlar

Kimi hastaların deri-mukoza lezyonları zamanla düzelir

Ağız mukozasında vezikülobüllöz junctional lezyonlar

Mine hipoplazisi

Diş çürükleri

Konjenital pilor atrezisi

Üriner sistem anomalileri

Piyonefroz

Kardiyomyopati (dilate)

Aplasia cutis congenita

Alopesi

Tırnak distrofileri

Annede alfa-fetoprotein düzeyi yüksek

Bebeklik ölümleri

 

  • Maman E, Maor E, Kachko L, Carmi R. Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. American Journal of Medical Genetics, 78: 127-133, 1998

  • Kirkham J, Robinson C, Strafford SM, et al. The chemical composition of tooth enamel in junctional epidermolysis bullosa. Archives of Oral Biology, 45:377–386, 2000

  • Anton-Lamprecht I, Gedde-Dahl T. Epidermolysis bullosa. In: Rimoin DL, Connor MJ, Pyeritz RE, Korf BR, Emery AEH, eds. Emery and Rimoin’s Principles and Practice of Medical Genetics. 4 edt., pp. 3810-3896, Churchill Livingstone Publishers, New York, 2002

  • Nakamura H, Sawamura D, Goto M, et al. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). Journal of Molecular Diagnosis, 7:28–35, 2005

  • Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. Journal of Medical Genetics, 43: 641-652, 2006

  • Azizkhan RG, Denyer JE, Mellerio JE, et al. Surgical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. International Journal of Dermatology, 46:801–808, 2007

  • Pfendner EG, Bruckner A, Conget P, et al. Basık science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.  International Journal of Dermatology, 46: 781–794, 2007

  • Birnbaum RY, Landau D, Elbedour K, et al. Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. American Journal of Medical Genetics A, 146A:1063–1066, 2008

  • Salvestrini C, McGrath JA, Ozoemena L, et al. Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. Journal of Pediatric Gastroenterology & Nutrition, 47:585–591, 2008

  • Natsuga K, Nishie W, Arita K, et al. Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. Journal of Investigative Dermatology, 130:2671–2674, 2010