ABSTRACT

Dyskeratosis congenita is a rare, X-linked recessive, severe multisystem disease characterized by atrophy and pigmentation of skin; nail dystrophy, leukoplakia of mucous membranes, bone-marrow failure and a predisposition to malignancy. The autozomal dominant and autozomal recessive forms of the disease are recognized. The pathogenesis of dyskeratosis congenita is still unclear, but DKC1 gene, mapped to Xq28 was seen responsible for X-linked dyskeratosis congenita, and a curative therapy is presently lacking. In this article, a 19-year-old white male who had reticulated hyperpigmented and atrophic skin lesions on the neck, shoulders, popliteal fossae and limbs, and leucokeratosis on the dorsum and sides of the tongue, and dystrophic nails, and who was diagnosed as dyskeratosis congenita was reported.