The n e w e ng l a n d j o u r na l of m e dic i n e

Images in Clinical Medicine

Chana A. Sacks, M.D., Editor

Dyskeratosis Congenita
A B C

A
Daniel A. Kelmenson, M.D. 52-year-old man presented to the pulmonary clinic with a
University of Colorado 2-month history of cough and dyspnea on exertion. He had a history of
Aurora, CO pancytopenia, although previous evaluation, including bone marrow biopsy,
dkelmenson@gmail.com had not resulted in any diagnosis of the cause. His brother had died after undergoing
Michael Hanley, M.D. bone marrow transplantation for aplastic anemia. Physical examination revealed
short stature, thin graying hair, missing teeth, nail dystrophy (Panel A), tongue
Denver Health Medical Center
Denver, CO leukoplakia (Panel B), and reticulated hypopigmentation of the neck (Panel C).
Computed tomography of the chest revealed characteristic findings of pulmonary
fibrosis that were predominant in the lower lobes. The triad of nail dystrophy,
mucosal leukoplakia, and skin findings led to a clinical suspicion of dyskeratosis
congenita. Dyskeratosis congenita is a heritable disorder of telomere maintenance
that causes short telomeres, leading to manifestations such as bone marrow failure,
cancer, and pulmonary fibrosis. Testing of peripheral-blood leukocytes confirmed
that the telomere lengths in this patient were below the 1st percentile for age. The
patient began taking danazol, a synthetic androgen that may lengthen telomeres,
and had subsequent increases in his platelet, red-cell, and white-cell counts.
DOI: 10.1056/NEJMicm1613081
Copyright 2017 Massachusetts Medical Society.

1460 n engl j med 376;15 nejm.org April 13, 2017

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