Witkop-von Sallmann sendromu | herediter benign intraepitelyal diskera

Witkop-von Sallmann sendromu (herediter benign intraepitelyal diskeratoz)

Kalıtsal - AD

Yumuşak beyaz plaklar/papüller: kommisuralar, yanak, dudak, ağız tabanı, dil, damak, dişetleri

Göz açılarında köpüksü-jelatinöz madde

Bulbus konjunktivasında hiperemi

Görmede azalma

Fotofobi

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Allingham RR, Seo B, Rampersaud E, et al. A Duplication in chromosome 4q35 Is associated with hereditary benign intraepithelial dyskeratosis. American Journal of Human Genetics, 68(2): 491–494, 2001
Baroni A, Palla M, Aiello FS, et al. Hereditary benign intraepithelial dyskeratosis: case report. International Journal of Dermatology, 48: 627-629, 2009
Cai R, Zhang C, Chen R, et al. Clinicopathological features of a suspected case of hereditary benign intraepithelial dyskeratosis with bilateral corneas involved: a case report and mini review. Cornea, 30(12):1481-1484, 2011
Bui T, Young JW, Frausto RF, et al. Hereditary benign intraepithelial dyskeratosis: Report of a case and reexamination of the evidence for locus heterogeneity. Ophthalmic Genetics, 37(1): 76–80, 2016