hereditary benign intraepithelial dyskeratosis
A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.
MONDO:0002254
syndromic disease
is_a
MONDO:0020212
superficial corneal dystrophy
is_a
HBID
exact
Witkop-Von Sallmann disease
exact
dyskeratosis, hereditary benign intraepithelial
related
hereditary benign corneal intraepithelial dyskeratosis
exact