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Tuberc Respir Dis.  2013 Feb;74(2):70-73.

Interstitial Lung Disease in a Patient with Dyskeratosis Congenita

Affiliations
  • 1Department of Internal Medicine, Yeungnam University College of Medicine, Daegu, Korea. jhchn@med.yu.ac.kr
  • 2Regional Center for Respiratory Disease, Yeungnam University Medical Center, Daegu, Korea.
  • 3Department of Dermatology, Yeungnam University College of Medicine, Daegu, Korea.

Abstract

Dyskeratosis congenita is a rare congenital disorder characterized by a triad of reticular pigmentation of the skin, dystrophic nails, and leukoplakia of the mucous membrane. Sometimes it is associated with bone marrow failure, secondary malignancy and interstitial lung disease. Though it is rare, Dyskeratosis congenita is diagnosed relatively easily when clinicians suspect it. It can be diagnosed just by gross inspection with care. Dyskeratosis congenita should be considered as one cause associated with interstitial lung disease. In Korea, interstitial lung disease with dyskeratosis congenita has not been reported. We report a case and review the literature.

Keyword

Lung Diseases, Interstitial; Dyskeratosis Congenita; Anemia, Aplastic

MeSH Terms

Anemia, Aplastic
Bone Marrow
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dyskeratosis Congenita
Humans
Korea
Leukoplakia
Lung Diseases, Interstitial
Mucous Membrane
Nails
Pigmentation
Skin
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