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Epidermolizis bülloza-junctional tip

Kalıtsal -AR

Deri ve mukozalarda kırılganlık

En küçük travmalara bile duyarlılık

Deri ve mukozaları etkileyen junctional vezikülobüllöz patolojiler

Deri bülleri: eller ve ayaklar

Mukoza bülleri: ağız ve üst solunum yolları

Granülasyon dokusu ile iyileşen büller

Sikatris bırakmadan iyileşme

Aplasia cutis congenita

Tırnak distrofisi

Alopesi

  • Herlitz JEB (aka lethal) tipi

Doğumda varolan büller ilk aylarda belirginleşir

Diş minelerinde beneklenmeler

Çok sayıda çürük diş

Hipodonti

Üriner sistem anomalileri olabilir

Bebeklik ölümleri

  • Non-Herlitz JEB (aka lethal) tipi

Ellerde-ayaklarda ve eklem yerlerinde büller

Diş minelerinde beneklenmeler

Çok sayıda çürük diş

Hipodonti

Üriner sistem anomalileri olmayabilir

İlk yaşlarda geriler

 

  • Birche, AJ, Lang-Muritano M, Pfaltz M, Bruckner-Tuderman L. Epidermolysis bullosa junctionalis progressiva in three siblings. British Journal of Dermatology, 128: 429-435, 1993

  • Baudoin C, Miquel C, Blanchet-Bardon CP, et al. Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression. Journal of Clinical Investigation, 93: 862-869, 1994

  • Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biology, 18: 29-42, 1999

  • 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

  • Inoue M, Tamai K, Shimizu H, et al. A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? Journal of Investigative Dermatology, 114:1061–1064, 2000

  • Nakano A, Lestringant GG, Paperna T, et al. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. Journal of the American Academy of Dermatology, 46(4):510-516, 2002

  • Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. Journal of Medical Genetics, 43(8):641-652, 2006

  • Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. Journal of the American Academy of Dermatology, 58(6):931-950, 2008

  • Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. Journal of the American Academy of Dermatology, 61:367–384, 2009

  • Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. Journal of the American Academy of Dermatology, 61:387–402, 2009

  • Ida JB, Livshitz I, Azizkhan RG, et al. Upper airway complications of junctional epidermolysis bullosa. Journal of Pediatrics, 160:657–661, 2012

 

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