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Interstitial Lung Disease in a Patient with Dyskeratosis Congenita

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, D...

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Autores principales: Kim, Hyun Jung, Kim, Kyu Jin, Lee, Kwan Ho, Shin, Kyeong-Cheol, Chung, Jin Hong, Hyun, Myung Soo, Kim, Ki-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Tuberculosis and Respiratory Diseases 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591541/
https://www.ncbi.nlm.nih.gov/pubmed/23483786
http://dx.doi.org/10.4046/trd.2013.74.2.70
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author Kim, Hyun Jung
Kim, Kyu Jin
Lee, Kwan Ho
Shin, Kyeong-Cheol
Chung, Jin Hong
Hyun, Myung Soo
Kim, Ki-Hong
author_facet Kim, Hyun Jung
Kim, Kyu Jin
Lee, Kwan Ho
Shin, Kyeong-Cheol
Chung, Jin Hong
Hyun, Myung Soo
Kim, Ki-Hong
author_sort Kim, Hyun Jung
collection PubMed
description 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.
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spelling pubmed-35915412013-03-12 Interstitial Lung Disease in a Patient with Dyskeratosis Congenita Kim, Hyun Jung Kim, Kyu Jin Lee, Kwan Ho Shin, Kyeong-Cheol Chung, Jin Hong Hyun, Myung Soo Kim, Ki-Hong Tuberc Respir Dis (Seoul) Case Report 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. The Korean Academy of Tuberculosis and Respiratory Diseases 2013-02 2013-02-28 /pmc/articles/PMC3591541/ /pubmed/23483786 http://dx.doi.org/10.4046/trd.2013.74.2.70 Text en Copyright©2013. The Korean Academy of Tuberculosis and Respiratory Diseases. All rights reserved. http://creativecommons.org/licenses/by-nc/3.0/ It is identical to the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/)
spellingShingle Case Report
Kim, Hyun Jung
Kim, Kyu Jin
Lee, Kwan Ho
Shin, Kyeong-Cheol
Chung, Jin Hong
Hyun, Myung Soo
Kim, Ki-Hong
Interstitial Lung Disease in a Patient with Dyskeratosis Congenita
title Interstitial Lung Disease in a Patient with Dyskeratosis Congenita
title_full Interstitial Lung Disease in a Patient with Dyskeratosis Congenita
title_fullStr Interstitial Lung Disease in a Patient with Dyskeratosis Congenita
title_full_unstemmed Interstitial Lung Disease in a Patient with Dyskeratosis Congenita
title_short Interstitial Lung Disease in a Patient with Dyskeratosis Congenita
title_sort interstitial lung disease in a patient with dyskeratosis congenita
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591541/
https://www.ncbi.nlm.nih.gov/pubmed/23483786
http://dx.doi.org/10.4046/trd.2013.74.2.70
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