" /> Hereditary Benign Intraepithelial Dyskeratosis - CISMeF





Preferred Label : Hereditary Benign Intraepithelial Dyskeratosis;

NCIt synonyms : Witkop-Von Sallmann Disease; HBID;

NCIt definition : A rare autosomal dominant disorder with high penetrance that affects the limbal conjunctiva or oral mucosa. It is almost exclusively encountered in Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina and is caused by a duplication in chromosome 4q35. It is characterized by the presence of elevated epithelial dyskeratotic plaques in the limbal conjunctiva or oral cavity. Epithelial dysplasia is absent.;

Neoplastic status : Benign;

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29/07/2025


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