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HMD sendromu

Herediter mukoepitelyal displazi

Kalıtsal - AD

Yineleyen otitis media

Keratokonjunktivit

Katarakt

Korneada opaklaşma-damarlanma

Görme bozukluğu

İçe şaşılık

Aşırı göz yaşı

Aşırı burun akması

Mukozalar hiperemik (gingiva, damak, dil, konjunktiva, vagina)

Dilde derin çatlaklar

Mukozalarda infeksiyonlar

Psöriazisi andıran plaklar

Foliküler keratoz

Saçlar kaba-seyrek

Alopesi

 

• Witkop CJ Jr, White JG, King RA, et al. Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. American Journal of Human Genetics, 31: 414-427, 1979

• Urban MD, Schosser R, Spohn W, et al. New clinical aspects of hereditary mucoepithelial dysplasia. American Journal of Medical Genetics, 39: 338-341, 1991

• Rogers M, Kourt G, Cameron A. Hereditary mucoepithelial dysplasia. Pediatric Dermatology, 11: 133-138, 1994

• Boralevi F, Haftek M, Vabres P, et al. Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review. British Journal of Dermatology, 153: 310-318, 2005

 

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