Case Report : Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia

Takimoto-Sato, Michiko; Miyauchi, Toshinari; Suzuki, Masaru et al.

Frontiers in Genetics, 2022, 13, 870192

Permalink : https://hdl.handle.net/2115/86291

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https://doi.org/10.3389/fgene.2022.870192     4

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metadata only access
URI
https://hdl.handle.net/2115/86291
タイトル
Case Report : Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia
著者
Takimoto-Sato, Michiko ; Miyauchi, Toshinari ; Suzuki, Masaru ; Ujiie, Hideyuki ; Nomura, Toshifumi ; Ikari, Tomoo ; Nakamura, Tomohiko ; Takahashi, Kei ; Matsumoto-Sasaki, Machiko ; Kimura, Hirokazu ; Kimura, Hiroki ; Matsui, Yuichiro ; Kitagataya, Takashi ; Yamada, Ren ; Suzuki, Kazuharu ; Nakamura, Akihisa ; Nakai, Masato ; Sho, Takuya ; Ogawa, Koji ; Sakamoto, Naoya ; Yamaguchi, Naoko ; Otsuka, Noriyuki ; Tomaru, Utano ; Konno, Satoshi
著者名
Takimoto-Sato, Michiko
著者名
Miyauchi, Toshinari
著者名
Suzuki, Masaru
著者名
Ujiie, Hideyuki
著者名
Nomura, Toshifumi
著者名
Ikari, Tomoo
著者名
Nakamura, Tomohiko
著者名
Takahashi, Kei
著者名
Matsumoto-Sasaki, Machiko
著者名
Kimura, Hirokazu
著者名
Kimura, Hiroki
著者名
Matsui, Yuichiro
著者名
Kitagataya, Takashi
著者名
Yamada, Ren
著者名
Suzuki, Kazuharu
著者名
Nakamura, Akihisa
著者名
Nakai, Masato
著者名
Sho, Takuya
著者名
Ogawa, Koji
著者名
Sakamoto, Naoya
著者名
Yamaguchi, Naoko
著者名
Otsuka, Noriyuki
著者名
Tomaru, Utano
e-Rad_Researcher
20399835
著者名
Konno, Satoshi
言語
英語
キーワード
POIKTMP
FAM111B
interstitial pneumonia
liver cirrhosis
case report
発行日
2022-05
出版者
Frontiers Media
収録物名
Frontiers in Genetics
巻(号)
13
ページ
870192
抄録
Background: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is an extremely rare disease caused by mutations in FAM111B, and only approximately 30 cases have been reported worldwide. Some patients develop interstitial pneumonia, which may lead to progressive pulmonary fibrosis and poor prognosis. However, no effective treatment for interstitial pneumonia associated with POIKTMP has been reported. Here, we report an autopsy case of POIKTMP, wherein interstitial pneumonia was improved by corticosteroids.Case Presentation: A 44-year-old Japanese man was referred to our hospital due to poikiloderma, hypotrichosis, and interstitial pneumonia. He developed progressive poikiloderma and muscle weakness since infancy. He also had tendon contractures, short stature, liver cirrhosis, and interstitial pneumonia. Mutation analysis of FAM111B revealed a novel and de novo heterozygous missense mutation, c.1886T > G (p(Phe629Cys)), through which we were able to diagnose the patient with POIKTMP. 3 years after the POIKTMP diagnosis, interstitial pneumonia had worsened. After 2 weeks of administrating 40 mg/day of prednisolone, his symptoms and lung shadows improved. However, he subsequently developed severe hepatic encephalopathy and eventually died of respiratory failure due to bacterial pneumonia and pulmonary edema. Autopsy revealed an unclassifiable pattern of interstitial pneumonia, as well as the presence of fibrosis and fatty degeneration in several organs, including the liver, kidney, skeletal muscle, heart, pancreas, and thyroid.Conclusions: We report a case of POIKTMP in which interstitial pneumonia was improved by corticosteroids, suggesting that corticosteroids could be an option for the treatment of interstitial pneumonia associated with this disease.
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学術雑誌論文
出版タイプ
Version of Record
関連情報 (isIdenticalTo)
出版社版DOI
https://doi.org/10.3389/fgene.2022.870192