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Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients.

作者信息

Chasseuil E, McGrath J A, Seo A, Balguerie X, Bodak N, Chasseuil H, Denis-Musquer M, Goldenberg A, Goussot R, Irvine A D, Khumalo N P, King M C, Küry S, Lipsker D, Mallet S, Mayosi B M, Nanda A, Puzenat E, Salort-Campana E, Sidbury R, Shimamura A, Bézieau S, Mercier S, Barbarot S

机构信息

CHU de Poitiers, Service de dermatologie, Poitiers, France.

St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.

出版信息

Br J Dermatol. 2019 Oct;181(4):862-864. doi: 10.1111/bjd.17996. Epub 2019 Apr 10.

DOI:10.1111/bjd.17996
PMID:30972747
Abstract
摘要

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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
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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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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.
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Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis.FAM111B基因突变导致遗传性纤维化性皮肤异色症伴肌腱挛缩、肌病和肺纤维化。
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[Pulmonary fibrosis associated with hereditary fibrosing poikiloderma caused by FAM111B mutation: A case report].[由FAM111B突变引起的遗传性纤维化性皮肤异色症相关的肺纤维化：一例报告]
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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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CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).遗传性纤维性苔藓样皮肤异色症伴肌腱挛缩、肌病和肺纤维化（POIKTMP）的CUGC
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Skin biopsy is helpful in the diagnosis of hereditary fibrosing POIKiloderma with tendon contractures, myopathy and pulmonary fibrosis, due to FAM111B mutation.皮肤活检有助于诊断由FAM111B突变引起的伴有肌腱挛缩、肌病和肺纤维化的遗传性纤维化性皮肤异色症。
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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。
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Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.遗传性纤维性异色性皮肤营养不良（POIKTMP 综合征）：新突变的报告及文献复习。
Pediatr Dermatol. 2023 Jan;40(1):182-187. doi: 10.1111/pde.15133. Epub 2022 Sep 14.

引用本文的文献

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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.
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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。
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