Dyskeratosis Congenita with Acute Myeloid Leukemia, Cryptogenic Liver Fibrosis and Portal Hypertension.

Dyskeratosis Congenita with Acute Myeloid Leukemia, Cryptogenic Liver Fibrosis and Portal Hypertension. J Assoc Physicians India. 2017 Oct;65(12):88-92 Authors: Panda PK, Sood R, Kanabar K, Jadon R, Sharma A, Birla S, Mishra P, Kumar T Abstract Dyskeratosis Congenita (DC), a 100-year-old known rare hereditary entity, has recently changed its definition as per the pathogenetic model in the last decade. Now it is well known as one of the telomeropathies, pathognomonically characterized by a triad of reticulate pigmentation of the skin, nail dystrophy, and mucosal leukoplakia. It is a progressive systemic disorder which usually presents with involvement of several family members. Malignancies are increasingly reported. Clinical diagnosis is simple once there is a suspicion, but nowadays genetic diagnosis is advocated. Treatment is symptomatic and organ-oriented. We hereby report an adolescent male who presented with the classical mucocutaneous triad of DC with pancytopenia for four months. Bone marrow examination later revealed evolution of acute myeloid leukemia (AML). Liver function tests, imaging, and liver biopsy showed cryptogenic fibrosis with portal hypertension. Chemotherapy was started since hematopoietic stem cell transplantation was not feasible; however, he died very early due to repeated infections before completion of the treatment. AML and liver disease are increasingly reported independently in DC; however, coexistence o...
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research