[Hereditary benign intraepithelial dyskeratosis]

Abstract

Background: Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal dominant disorder with incomplete penetrance. It is characterized by bilateral limbal conjunctival plaques combined with similar changes in the oral mucosa.

Patient: An 11-year-old African-American patient presented with bilateral chronic conjunctivitis, nasal and temporal limbal conjunctival plaques, and plaques of the oral mucosa, all of which resisted therapy. The onset of the symptoms was in early childhood. Conjunctival smears, allergy tests, blood samples and the internal examination were inconclusive. Histologically, the ocular lesions showed acanthosis, parakeratosis, hyperkeratosis and dyskeratosis. An infiltrate of chronic inflammatory cells was present beneath the intact epithelial basement membrane.

Conclusions: The clinical and histological findings are characteristic of HBID. Symptoms usually start in early childhood and show a waxing and waning course. HBID was first seen among Haliwa Indians in North Carolina. In the meantime HBID has been described in other parts of the US and also in Europe. As these patients were not related to any of the Haliwa Indians, they are considered new mutations. Malignant changes of the conjunctival or oral lesions have not been reported.