HUSCAP logo Hokkaido Univ. logo

Hokkaido University Collection of Scholarly and Academic Papers >
Graduate School of Medicine / Faculty of Medicine >
Peer-reviewed Journal Articles, etc >

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

Files in This Item:

The file(s) associated with this item can be obtained from the following URL:

Title: Case Report : Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia
Authors: Takimoto-Sato, Michiko Browse this author
Miyauchi, Toshinari Browse this author
Suzuki, Masaru Browse this author
Ujiie, Hideyuki Browse this author
Nomura, Toshifumi Browse this author
Ikari, Tomoo Browse this author
Nakamura, Tomohiko Browse this author
Takahashi, Kei Browse this author
Matsumoto-Sasaki, Machiko Browse this author
Kimura, Hirokazu Browse this author
Kimura, Hiroki Browse this author
Matsui, Yuichiro Browse this author
Kitagataya, Takashi Browse this author
Yamada, Ren Browse this author
Suzuki, Kazuharu Browse this author
Nakamura, Akihisa Browse this author
Nakai, Masato Browse this author
Sho, Takuya Browse this author
Ogawa, Koji Browse this author
Sakamoto, Naoya Browse this author
Yamaguchi, Naoko Browse this author
Otsuka, Noriyuki Browse this author
Tomaru, Utano Browse this author
Konno, Satoshi Browse this author →KAKEN DB
Keywords: POIKTMP
interstitial pneumonia
liver cirrhosis
case report
Issue Date: May-2022
Publisher: Frontiers Media
Journal Title: Frontiers in Genetics
Volume: 13
Start Page: 870192
Publisher DOI: 10.3389/fgene.2022.870192
Abstract: 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.
Type: article
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Export metadata:

OAI-PMH ( junii2 , jpcoar_1.0 )

MathJax is now OFF:


 - Hokkaido University