A patient with pleuroparenchymal fibroelastosis carrying a novel

Case report Congenital contractural arachnodactyly Elastic fiber Fibrillin-2 Marfan syndrome Pleuroparenchymal fibroelastosis Reticular fiber

Journal

Respiratory medicine case reports
ISSN: 2213-0071
Titre abrégé: Respir Med Case Rep
Pays: England
ID NLM: 101604463

Informations de publication

Date de publication:
2023
Historique:
received: 26 02 2023
revised: 02 05 2023
accepted: 11 05 2023
medline: 30 5 2023
pubmed: 30 5 2023
entrez: 30 5 2023
Statut: epublish

Résumé

Pleuroparenchymal fibroelastosis is a recently recognized clinical entity characterized by interstitial pneumonia with proliferating elastin in the upper lung regions. Pleuroparenchymal fibroelastosis is categorized as idiopathic or reported depending on the coexistent initiating factors; however, congenital contractural arachnodactyly, which is caused by abnormal production of elastin based on a mutation in the

Identifiants

pubmed: 37251355
doi: 10.1016/j.rmcr.2023.101870
pii: S2213-0071(23)00065-5
pmc: PMC10209443
doi:

Types de publication

Case Reports

Langues

eng

Pagination

101870

Informations de copyright

© 2023 The Authors.

Déclaration de conflit d'intérêts

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Références

Respir Med. 2020 Sep;171:106077
pubmed: 32658840
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Am Rev Respir Dis. 1971 Dec;104(6):924-8
pubmed: 5125593
Matrix Biol. 2018 Nov;73:6-20
pubmed: 29331337
Thorax. 1984 Oct;39(10):780-4
pubmed: 6495247
Int J Tuberc Lung Dis. 2012 Apr;16(4):561-3
pubmed: 22325249
JAMA Dermatol. 2014 Aug;150(8):885-9
pubmed: 24740214
Ann Am Thorac Soc. 2019 Nov;16(11):1351-1359
pubmed: 31425665
Lab Invest. 2010 May;90(5):739-52
pubmed: 20195245
Chest. 2004 Dec;126(6):2007-13
pubmed: 15596706
Hum Mutat. 2022 Jul;43(7):815-831
pubmed: 35419902
J Thorac Dis. 2021 Oct;13(10):6012-6025
pubmed: 34795948
Am J Clin Pathol. 2011 Dec;136(6):857-63
pubmed: 22095370

Auteurs

Kouko Hidaka (K)

Department of Internal Medicine, Division of Respiratory Medicine, National Organization Hospital, Kokura Medical Center, Kitakyushu City, Fukuoka Prefecture, Japan.

Tetsuichiro Inai (T)

Department of Morphological Biology, Fukuoka Dental College, Fukuoka City, Fukuoka Prefecture, Japan.

Tomoki Kosho (T)

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto City, Nagano Prefecture, Japan.
Center for Medical Genetics, Shinshu University Hospital, Matsumoto City, Nagano Prefecture, Japan.
Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto City, Nagano Prefecture, Japan.
Research Center for Advanced Science and Technology, Shinshu University, Matsumoto City, Nagano Prefecture, Japan.

Tomomi Yamaguchi (T)

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto City, Nagano Prefecture, Japan.
Center for Medical Genetics, Shinshu University Hospital, Matsumoto City, Nagano Prefecture, Japan.
Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto City, Nagano Prefecture, Japan.

Yoshinori Kawabata (Y)

Division of Diagnostic Pathology, Saitama Cardiovascular and Respiratory Center, Kumagaya City, Saitama Prefecture, Japan.

Yuko Inai (Y)

Division of General Dentistry, Kyushu University Hospital, Kyushu University, Fukuoka City, Fukuoka Prefecture, Japan.

Shogo Imamura (S)

Department of Clinical Laboratory, National Organization Hospital, Kokura Medical Center, Kitakyushu City, Fukuoka Prefecture, Japan.

Sakiko Sanada (S)

Department of Pathology, Kurume University School of Medicine, Kurume City, Fukuoka Prefecture, Japan.

Classifications MeSH