Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita
A 42-year-old man with a history of surgery for tongue cancer was referred to our hospital due to an abnormal chest shadow. High-resolution computed tomography showed lower lobe reticulation. A physical examination revealed nail dystrophy, oral leukoplakia, and reticulated hypopigmentation. Lung bio...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8112977/ https://www.ncbi.nlm.nih.gov/pubmed/33191321 http://dx.doi.org/10.2169/internalmedicine.5143-20 |
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author | Otoshi, Ryota Baba, Tomohisa Shintani, Ryota Kitamura, Hideya Yamaguchi, Yukie Hamanoue, Haruka Mizuguchi, Takeshi Matsumoto, Naomichi Okudela, Koji Takemura, Tamiko Ogura, Takashi |
author_facet | Otoshi, Ryota Baba, Tomohisa Shintani, Ryota Kitamura, Hideya Yamaguchi, Yukie Hamanoue, Haruka Mizuguchi, Takeshi Matsumoto, Naomichi Okudela, Koji Takemura, Tamiko Ogura, Takashi |
author_sort | Otoshi, Ryota |
collection | PubMed |
description | A 42-year-old man with a history of surgery for tongue cancer was referred to our hospital due to an abnormal chest shadow. High-resolution computed tomography showed lower lobe reticulation. A physical examination revealed nail dystrophy, oral leukoplakia, and reticulated hypopigmentation. Lung biopsy revealed subpleural and perilobular fibrosis, suggestive of usual interstitial pneumonia. However, multiple pathological findings, including homogenous fibrosis and cell infiltration in the centrilobular region, which were compatible with nonspecific interstitial pneumonia, and bronchiolitis were also seen. Genetic testing showed a hemizygous missense mutation in the DKC1 gene, and the patient was diagnosed with dyskeratosis congenita. Although anti-fibrotic therapy was initiated, the patient's respiratory function has continued to decrease. |
format | Online Article Text |
id | pubmed-8112977 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-81129772021-05-18 Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita Otoshi, Ryota Baba, Tomohisa Shintani, Ryota Kitamura, Hideya Yamaguchi, Yukie Hamanoue, Haruka Mizuguchi, Takeshi Matsumoto, Naomichi Okudela, Koji Takemura, Tamiko Ogura, Takashi Intern Med Case Report A 42-year-old man with a history of surgery for tongue cancer was referred to our hospital due to an abnormal chest shadow. High-resolution computed tomography showed lower lobe reticulation. A physical examination revealed nail dystrophy, oral leukoplakia, and reticulated hypopigmentation. Lung biopsy revealed subpleural and perilobular fibrosis, suggestive of usual interstitial pneumonia. However, multiple pathological findings, including homogenous fibrosis and cell infiltration in the centrilobular region, which were compatible with nonspecific interstitial pneumonia, and bronchiolitis were also seen. Genetic testing showed a hemizygous missense mutation in the DKC1 gene, and the patient was diagnosed with dyskeratosis congenita. Although anti-fibrotic therapy was initiated, the patient's respiratory function has continued to decrease. The Japanese Society of Internal Medicine 2020-11-16 2021-04-15 /pmc/articles/PMC8112977/ /pubmed/33191321 http://dx.doi.org/10.2169/internalmedicine.5143-20 Text en Copyright © 2021 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Otoshi, Ryota Baba, Tomohisa Shintani, Ryota Kitamura, Hideya Yamaguchi, Yukie Hamanoue, Haruka Mizuguchi, Takeshi Matsumoto, Naomichi Okudela, Koji Takemura, Tamiko Ogura, Takashi Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita |
title | Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita |
title_full | Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita |
title_fullStr | Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita |
title_full_unstemmed | Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita |
title_short | Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita |
title_sort | diverse pathological findings of interstitial lung disease in a patient with dyskeratosis congenita |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8112977/ https://www.ncbi.nlm.nih.gov/pubmed/33191321 http://dx.doi.org/10.2169/internalmedicine.5143-20 |
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