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

Received: 05.03.2016; Revised: 05.01.2017; Accepted: 03.02.2017 by 20 years, and malignancy by 30 years.4 After the recognition of its pathogenetic mechanism as telomere dysfunction in the last decade, every system of the body is known to be affected with a greater involvement of high proliferative t issues l ike skin, bone marrow, immune cells, and intestinal epithelium. The degree of telomere dysfunction is the major determinant of the disease onset and manifestations.5 Clinical diagnosis is not diff icult once suspicion is high in patients with pancytopenia and pathognomonic muco-cutaneous triad. Nowadays, genetic testing is being considered for confirming the diagnosis with or without use of a screening test i.e. telomere length analysis, which could be false posit ive. T h e m a n a g e m e n t r e q u i r e s a m u l t i d i s c i p l i n a r y a p p r o a c h with symptomatic organ based treatment. Hereby, we report this case t o s h a r e i t s u n c o m m o n a n d rare associations as well as to review this emerging disorder, especially the pathogenetic model of telomeropathy.