Dyskeratosis congenita in a Nigerian boy

Abstract

Dyskeratosis congenita is a rare hereditary disease. It mainly affects males and manifest between 5 years and 12 years. Its classic manifestation consists of skin pigmentary changes, nail dystrophy, oral leukoplakia, bone marrow failure and predisposition to malignany. We report the case of a 9-year-old boy who presented with hyperpigmentation of the skin, palms and soles, leukoplakia of the tongue, dystrophy of the nails, epiphoria and recurrent epistaxis with gum bleeding. Full blood count showed pancytopenia and bone marrow biopsy showed hypocellular marrow with no abnormal cells. He was transfused with pack red blood cells, platelets concentrate and was commenced on co-trimoxazole prophylaxis and anabolic steroid. He is currently on follow-up in the paediatric clinic.

Keywords: Dyskeratosis congenita, nail dystrophy, oral leukoplakia, pancytopenia, skin pigmentation