Interstitial Lung Disease in a Patient with Dyskeratosis Congenita.
- Author:
Hyun Jung KIM
1
;
Kyu Jin KIM
;
Kwan Ho LEE
;
Kyeong Cheol SHIN
;
Jin Hong CHUNG
;
Myung Soo HYUN
;
Ki Hong KIM
Author Information
- Publication Type:Case Report
- Keywords: Lung Diseases, Interstitial; Dyskeratosis Congenita; Anemia, Aplastic
- MeSH: Anemia, Aplastic; Bone Marrow; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Dyskeratosis Congenita; Humans; Korea; Leukoplakia; Lung Diseases, Interstitial; Mucous Membrane; Nails; Pigmentation; Skin
- From:Tuberculosis and Respiratory Diseases 2013;74(2):70-73
- CountryRepublic of Korea
- Language:English
- 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.
