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...

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Autores principales: Otoshi, Ryota, Baba, Tomohisa, Shintani, Ryota, Kitamura, Hideya, Yamaguchi, Yukie, Hamanoue, Haruka, Mizuguchi, Takeshi, Matsumoto, Naomichi, Okudela, Koji, Takemura, Tamiko, Ogura, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
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.
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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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