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Case Report



Dyskeratosis congenita: a rare congenital pancytopenia

Sudipta Saha, Arnab Banerjee, Rajeev Ranjan, Mrinal Acharya, Abdullah Md. Hasan, Niladri Sarkar.




Abstract

Dyskeratosis congenita (DC) is a rare congenital disease involving integumentary system. It usually presents with classic triad of skin pigmentation of the upper chest and/or neck, nail dystrophy, and oral leukoplakia. Bone marrow failure (BMF) is a common complication of this disease and is an important cause of mortality in these patients. Here, we report a case of DC with BMF in a 13-year-old boy who was admitted for fever with pancytopenia with hypo- and hyperpigmented skin lesions. He was subsequently treated with blood component transfusion followed by hematopoietic bone marrow transplantation. DC must be suspected in a case of pancytopenia with skin lesions.

Key words: fever, pancytopenia, dyskeratosis congenita






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