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
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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
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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
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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
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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
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Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biology, 18: 29-42, 1999
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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
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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
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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
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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
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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
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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
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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
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Ida JB, Livshitz I, Azizkhan RG, et al. Upper airway complications of junctional epidermolysis bullosa. Journal of Pediatrics, 160:657–661, 2012