Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity.

ABSTRACT:

Background

Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal-dominant disorder of the conjunctiva and oral mucosa first described in and predominantly affecting descendents of Haliwa-Saponi Native Americans. We report a spontaneous case of histopathologically-confirmed HBID affecting an individual not of Native American ancestry.

Materials and methods

Report of a case with histopathologic examination of an excised conjunctival specimen as well as molecular and cytogenetic analysis.

Results

A Caucasian boy with a history of oral lesions and conjunctival injection from birth developed bilateral corneal opacities at age 5 and underwent penetrating keratoplasty, with recurrence of the corneal opacification shortly after surgery. Examination of a co

SUBMITTER: Bui T 

PROVIDER: S-EPMC4139474 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature