Interstitial Lung Disease in a Patient with Dyskeratosis Congenita

Tuberculosis and Respiratory Diseases

article

Hyun Jung Kim¹  Kyu Jin Kim¹  Kwan Ho Lee¹  Kyeong-Cheol Shin¹  Jin Hong Chung¹  Myung Soo Hyun¹  Ki-Hong Kim² 

[1] Department of Internal Medicine, Yeungnam University College of Medicine;Department of Dermatology, Yeungnam University College of Medicine

关键词: Lung Diseases;    Interstitial;    Dyskeratosis Congenita;    Anemia;    Aplastic;   

DOI  :  10.4046/trd.2013.74.2.70

学科分类：医学（综合）

来源: The Korean Academy of Tuberculosis and Respiratory Diseases

【 摘 要 】

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.

【 授权许可】

CC BY-NC