ABSTRACT

Dyskeratosis congenita is a rare X-linked recessive, multisystem disease characterized by bone marrow failure, oral leukoplakia, nail dystrophy, and reticular skin pigmentations. It is also associated with ocular abnormalities. In this article, we present a young male with a diagnosis of dyskeratosis congenita who had reticulated hyperpigmented skin lesions on the neck, shoulders and upper eyelids, bilateral punctal and canalicular obstruction, and dystrophic nails.