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Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of .

作者信息

Dokic Yelena, Albahrani Yasser, Phung Thuy, Patel Kalyani, de Guzman Marietta, Hertel Paula, Hunt Raegan

机构信息

School of Medicine, Department of Dermatology, Bayor College of Medicine, Houston, Texas.

Department of Pediatrics and Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.

出版信息

JAAD Case Rep. 2020 Oct 10;6(12):1217-1220. doi: 10.1016/j.jdcr.2020.09.025. eCollection 2020 Dec.

DOI:10.1016/j.jdcr.2020.09.025
PMID:33294546
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7701006/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e24/7701006/b7e52fcca80f/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e24/7701006/2dc2c269c047/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e24/7701006/b894f7087fe9/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e24/7701006/ed4b87ded576/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e24/7701006/b7e52fcca80f/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e24/7701006/2dc2c269c047/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e24/7701006/b894f7087fe9/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e24/7701006/ed4b87ded576/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e24/7701006/b7e52fcca80f/gr4.jpg

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1
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis: Hepatic disease in a child with a novel pathogenic variant of .伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维化性皮肤异色症：一名患有新型致病变体的儿童的肝脏疾病
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2
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维性皮肤异色症
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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.因FAM111B基因突变导致的伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维性皮肤异色症临床谱的扩展。
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Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation.遗传性纤维性异色性弹力纤维瘤伴肌腱挛缩、肌病和肺纤维化一家系，由新型 FAM111B 突变引起。
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Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma.由突变引起的伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维性皮肤异色症的扩展表型：一个新家庭的报告引发了癌症易感性问题，并对早发性皮肤异色症进行简要综述
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Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia.病例报告：伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维性皮肤异色症（POIKTMP）并发肝硬化和类固醇反应性间质性肺炎。
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Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.人类 FAM111B 基因假定蛋白酶结构域内的突变可能预测疾病严重程度和预后不良：POIKTMP 病例综述。
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A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.一种新型 FAM111B 移码致病性变异导致进行性骨异质性表型。
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Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.述评：病例报告：伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维化性皮肤异色症（POIKTMP）伴肝硬化和类固醇反应性间质性肺炎。
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Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.泛素-蛋白酶体系统失调在FAM111B相关的皮肤异色病及表型谱扩展中的作用：新病例报告及长期随访
EBioMedicine. 2025 Aug 20;119:105864. doi: 10.1016/j.ebiom.2025.105864.
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Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.解析FAM111A和FAM111B的复杂作用：从蛋白酶介导的细胞过程到疾病影响
Int J Mol Sci. 2024 Feb 29;25(5):2845. doi: 10.3390/ijms25052845.
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Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.

本文引用的文献

1
Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients.伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维化性皮肤异色症（POIKTMP）的皮肤表现：28例病例系列
Br J Dermatol. 2019 Oct;181(4):862-864. doi: 10.1111/bjd.17996. Epub 2019 Apr 10.
2
A case of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) with the emphasis on cutaneous histopathological findings.1例伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维性皮肤异色症（POIKTMP），重点关注皮肤组织病理学表现。
J Eur Acad Dermatol Venereol. 2018 Dec;32(12):e443-e445. doi: 10.1111/jdv.14968. Epub 2018 May 1.
3
述评：病例报告：伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维化性皮肤异色症（POIKTMP）伴肝硬化和类固醇反应性间质性肺炎。
Front Genet. 2023 Dec 22;14:1255807. doi: 10.3389/fgene.2023.1255807. eCollection 2023.
4
Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length.在遗传性纤维化性皮肤异色症中发生突变的FAM111B蛋白酶缺失会负向调节端粒长度。
Front Cell Dev Biol. 2023 Jun 5;11:1175069. doi: 10.3389/fcell.2023.1175069. eCollection 2023.
5
Case report: Discovery of a pathogenic variant in a patient with an APECED-like clinical phenotype.病例报告：在具有 APECED 样临床表型的患者中发现致病性变异。
Front Immunol. 2023 Feb 17;14:1133387. doi: 10.3389/fimmu.2023.1133387. eCollection 2023.
6
Functions and evolution of FAM111 serine proteases.FAM111丝氨酸蛋白酶的功能与进化
Front Mol Biosci. 2022 Dec 15;9:1081166. doi: 10.3389/fmolb.2022.1081166. eCollection 2022.
7
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.聚焦于肝受累的 FAM111B 相关疾病表型扩展：文献复习、一例终末期肝病病例报告及新缩略语建议。
Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23.
8
Proposed Cellular Function of the Human FAM111B Protein and Dysregulation in Fibrosis and Cancer.人类FAM111B蛋白的推测细胞功能及其在纤维化和癌症中的失调
Front Oncol. 2022 Jul 4;12:932167. doi: 10.3389/fonc.2022.932167. eCollection 2022.
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Mutations within the putative protease domain of the human FAM111B gene may predict disease severity and poor prognosis: A review of POIKTMP cases.人类 FAM111B 基因假定蛋白酶结构域内的突变可能预测疾病严重程度和预后不良：POIKTMP 病例综述。
Exp Dermatol. 2022 May;31(5):648-654. doi: 10.1111/exd.14537. Epub 2022 Feb 13.
10
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.两名经分子确诊的意大利遗传性苔藓样皮肤异色病患者外周血淋巴细胞中的自发染色体不稳定性：对癌症易感性的见解
Genet Mol Biol. 2021 Aug 6;44(3):e20200332. doi: 10.1590/1678-4685-GMB-2020-0332. eCollection 2021.
Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma.
由突变引起的伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维性皮肤异色症的扩展表型：一个新家庭的报告引发了癌症易感性问题，并对早发性皮肤异色症进行简要综述
JAAD Case Rep. 2017 Mar 19;3(2):143-150. doi: 10.1016/j.jdcr.2017.01.002. eCollection 2017 Mar.
4
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.由于FAM111B基因的新生突变导致的综合征性遗传性皮肤异色症。
Br J Dermatol. 2017 Feb;176(2):534-536. doi: 10.1111/bjd.14845. Epub 2016 Dec 22.
5
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.FAM111B突变与遗传性外分泌胰腺功能障碍相关。
Pancreas. 2016 Jul;45(6):858-62. doi: 10.1097/MPA.0000000000000529.
6
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.因FAM111B基因突变导致的伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维性皮肤异色症临床谱的扩展。
Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4.
7
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.FAM111B 基因突变可导致遗传性纤维性异色性皮病伴肌腱挛缩、肌病和肺纤维化。
Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21.
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Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?皮肤异色症、肌腱挛缩和肺纤维化：一种新的常染色体显性综合征？
Br J Dermatol. 2006 Nov;155(5):1057-61. doi: 10.1111/j.1365-2133.2006.07473.x.
9
Connective tissue diseases and the liver.结缔组织病与肝脏
J Clin Gastroenterol. 2002 Oct;35(4):345-9. doi: 10.1097/00004836-200210000-00012.