Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology.

Abstract

Abstract Context.—Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal dominant disorder characterized by elevated epibulbar and oral plaques and hyperemic conjunctival blood vessels. The condition is predominantly seen in Native Americans belonging to the Haliwa-Saponi tribe located in northeastern North Carolina. Objective.—To determine whether HBID can be diagnosed using cytologic preparations of the conjunctiva, and whether the cytologic findings correlated with the genetic linkage involving a duplication in chromosome 4 (4q35). Design.—Cytologic preparations from conjunctival brushings in patients afflicted with HBID and from unaffected blood relatives with normal conjunctivas were compared in a masked fashion. Cytologic observations were correlated with molecular genetic analyses. Results.—Papanicolaou-stained preparations from the conjunctiva showed the typical cytologic features of HBID, including rounded squamous epithelial cells with dense homogenous orange cytoplasm and hyp...