A case of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) with the emphasis on cutaneous histopathological findings-Reference-Cited by-同舟云学术

A case of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) with the emphasis on cutaneous histopathological findings

Published:2018-05-01 Issue:12 Volume:32 Page:e443-e445
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Kazlouskaya V.¹,Feldman E.J.²,Jakus J.¹,Heilman E.¹,Glick S.¹

Affiliation:

1. Department of Dermatology; SUNY Downstate Medical Center; Brooklyn NY USA

2. Department of Pediatrics; NYU Langone Medical Center; New York NY USA

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14968/fullpdf

Reference6 articles.

1. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis;Mercier;Am J Hum Genet,2013

2. Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?;Khumalo;Br J Dermatol,2006

3. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations;Mercier;Orphanet J Rare Dis,2015

4. FAM111B mutation is associated with inherited exocrine pancreatic dysfunction;Seo;Pancreas,2016

5. Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma;Goussot;JAAD Case Rep,2017

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1. Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications;International Journal of Molecular Sciences;2024-02-29

2. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length;Frontiers in Cell and Developmental Biology;2023-06-05

3. Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype;Frontiers in Immunology;2023-02-17

4. Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma syndrome negatively regulates telomere length;2023-01-23

5. FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening;Cancer Treatment and Research Communications;2023