Dyskeratosis congenita: a rare congenital pancytopenia

Abstract

appetite. He also showed skin lesions in chest. There was no history of seizure, vomiting, cough, chronic diarrhea, dysuria, and joint pain. There was exertional dyspnea (NYHA class 2). He had received blood transfusion three times in the past. There was no family history of any chronic illness. Examination revealed poor nutrition with a body mass index of 16.3 kg/m 2 (height, 4'8"; weight, 33 kg), pallor, hypo-hyperpigmented macular and patchy skin lesions involving chest with reticulated pigmentation in body [Figure 1], and ridging, splitting and atrophy of nails in all four limbs [Figure 2]. There was no icterus, edema, clubbing, or enlarged lymph nodes. Pulse was 120/min; blood pressure, 100/60 mm Hg right arm supine position; and 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.