By Gary M. White, MD

Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia. Patients with DC are unable to maintain the telomere complex that protects the chromosome ends and consequently have very short telomeres. Shortened telomeres can cause a number of clinical conditions, such as bone marrow failure, pulmonary fibrosis, hepatic fibrosis, and a predisposition to malignancy.


Nail dystrophy (e.g. destruction of the nail plate, pterygia), reticulated pigmentation beginning on the trunk, and leukoplakia of mucosal surfaces occur in dyskeratosis congenita.


Treatment should be carried out by a specialist in this disorder. The only treatment that can alter the course of the disease is bone marrow transplantation. Unfortunately, not all patients have a relative who is a suitable donor.


Without bone marrow transplantation, the prognosis is poor. When death occurs, it usually stems from a complication of bone marrow failure, e.g. infection and bleeding. Malignancy is the next most common cause of death.


A 52-year-old man presented with a 2-month history of cough and dyspnea on exertion. He had a history of pancytopenia. His brother had died after undergoing bone marrow transplantation for aplastic anemia. Physical examination revealed short stature, thin graying hair, missing teeth, nail dystrophy, leukoplakia of the tonuge, and reticulated hypopigmentation of the neck. N Engl J Med 2017; 376:1460

Dyskeratosis Congenita- Management and Review of Complications: A Case Report. Oman Med J 2013 Jul; 28(4):281-284.


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