Journal de cytologie et d'histologie

Conjunctival Dysplasia and Atypical Secondary Acquired Melanosis in Xeroderma Pigmentosum

Abstract

Lim EWL, Lim L, Issam Al Jajeh and Jayasinghe LS

Xeroderma pigmentosum (XP) is a rare genetic disease associated with hypersensitivity to ultraviolet radiation resulting in cutaneous, ocular and neurological abnormalities. Ocular involvement typically includes photophobia, keratitis, corneal opacity and atrophy of the eyelids, along with carcinomas and melanomas. We report a rare case of conjunctival dysplasia and atypical secondary acquired melanosis in a patient with XP. A 9 year old Indian boy with a history of XP presented with conjunctival lesions over the course of one year. The ocular involvement manifested as conjunctival actinic keratosis/epithelial dysplasia and atypical secondary acquired melanosis. To the best of our knowledge, atypical secondary acquired melanosis has not previously been reported in association with XP in the literature. We present our clinical and histopathological findings of conjunctival dysplasia and atypical secondary acquired melanosis in this patient. Although acquired melanosis with atypia is known to occur and is often reported as a cutaneous manifestation of XP, it is rarely reported as a conjunctival manifestation in XP. It is possible that the early acquired melanosis is overshadowed by more visible conjunctival intraepithelial neoplasia (CIN) lesions.