Case Reports
doi: 10.1111/bjd.14845.
Epub 2016 Dec 22.
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B
Affiliations
- PMID: 27406236
- DOI: 10.1111/bjd.14845
Item in Clipboard
Case Reports
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B
Br J Dermatol.
2017 Feb.
No abstract available
Similar articles
-
Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis.Acta Derm Venereol. 2019 Jun 1;99(7):695-696. doi: 10.2340/00015555-3186. Acta Derm Venereol. 2019. PMID: 30938824 No abstract available.
-
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4. Orphanet J Rare Dis. 2015. PMID: 26471370 Free PMC article.
-
Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.J Dermatol. 2019 Nov;46(11):1014-1018. doi: 10.1111/1346-8138.15045. Epub 2019 Aug 7. J Dermatol. 2019. PMID: 31392773
-
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869874 Free PMC article. Review.
-
Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.Pediatr Dermatol. 2023 Jan;40(1):182-187. doi: 10.1111/pde.15133. Epub 2022 Sep 14. Pediatr Dermatol. 2023. PMID: 36102338 Review.
Cited by
-
FAM111B, a direct target of p53, promotes the malignant process of lung adenocarcinoma.Onco Targets Ther. 2019 Apr 17;12:2829-2842. doi: 10.2147/OTT.S190934. eCollection 2019. Onco Targets Ther. 2019. PMID: 31114230 Free PMC article.
-
Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length.Front Cell Dev Biol. 2023 Jun 5;11:1175069. doi: 10.3389/fcell.2023.1175069. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37342232 Free PMC article.
-
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.JAAD Case Rep. 2017 Mar 19;3(2):143-150. doi: 10.1016/j.jdcr.2017.01.002. eCollection 2017 Mar. JAAD Case Rep. 2017. PMID: 28349113 Free PMC article. No abstract available.
-
Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.Exp Dermatol. 2022 May;31(5):648-654. doi: 10.1111/exd.14537. Epub 2022 Feb 13. Exp Dermatol. 2022. PMID: 35122327 Free PMC article. Review.
-
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of FAM111B.JAAD Case Rep. 2020 Oct 10;6(12):1217-1220. doi: 10.1016/j.jdcr.2020.09.025. eCollection 2020 Dec. JAAD Case Rep. 2020. PMID: 33294546 Free PMC article. No abstract available.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
