Dyskeratosis congenita is a rare, usually X-linked disorder typically
characterized by leucokeratosis of the mucous membranes, nail dystroph
y, reticulate hyperpigmentation and progressive bone marrow aplasia. W
e report a new case of a male patient with characteristic muco-cutaneo
us changes and bone marrow aplasia. We discuss the pathogenesis of thi
s disease which remains unexplained.