Zinsser-Cole-Engmann syndrome also called Dyskeratosis Congenita (DKC) is a rare genodermatosis first described by Zinsser in 1906. Mutations in DKC1 gene is responsible for DKC. It is usually inherited as an X-linked recessive trait, resulting in a striking male predilection. It is characterized by a triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia. Complications include predisposition to malignancy and bone marrow failure. Here, we report a case of DKC in a 9-year-old boy with classic triad of signs. Special investigations like endoscopy, barium swallow and bone-marrow aspiration study confirmed the diagnosis. There is no effective treatment for DKC. Some preventive measures can be adopted and the only long term cure for the haematological abnormalities is allogenic haemopoietic stem cell transplantation.
Keywords: Dyskeratosis congenita; Hyperpigmentation; Leukoplakia.