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化脓性汗腺炎相关自身炎症性综合征:坏疽性脓皮病、痤疮和化脓性汗腺炎(PASH)、化脓性关节炎、坏疽性脓皮病、痤疮和化脓性汗腺炎(PAPASH)、滑膜炎、痤疮、脓疱病、骨质增生和骨炎(SAPHO)以及更罕见形式的临床、遗传学和治疗的最新综述

Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.

机构信息

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Via Pace, 9, Milan 20122, Italy; Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace, 9, Milan 20122, Italy.

Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Pace, 9, Milan 20122, Italy.

出版信息

Dermatol Clin. 2024 Apr;42(2):247-265. doi: 10.1016/j.det.2023.12.004. Epub 2024 Jan 4.

DOI:10.1016/j.det.2023.12.004
PMID:38423685
Abstract

Hidradenitis suppurativa (HS) is an autoinflammatory skin disorder of the terminal hair follicle, which can present in sporadic, familial, or syndromic form. A classification has been proposed for the latter, distinguishing cases associated with a known genetic condition, with follicular keratinization disorders or with autoinflammatory diseases. This review focuses on the clinical and genetic features of those entities (ie, pyoderma gangrenosum [PG], acne and HS; PG, acne, pyogenic arthritis and HS; psoriatic arthritis, PG, acne and HS; synovitis, acne, pustulosis, hyperostosis, osteitis; and so forth) for which the collective term HS-related autoinflammatory syndromes is proposed.

摘要

化脓性汗腺炎(HS)是一种毛囊末端的自身炎症性皮肤病,可表现为散发性、家族性或综合征性。目前已经提出了一种分类方法,将其分为与已知遗传疾病相关、与毛囊角化障碍相关或与自身炎症性疾病相关的病例。本综述重点介绍了这些疾病(即坏疽性脓皮病[PG]、痤疮和 HS;PG、痤疮、化脓性关节炎和 HS;银屑病关节炎、PG、痤疮和 HS;滑膜炎、痤疮、脓疱病、骨质增生、骨炎;等等)的临床和遗传特征,对于这些疾病,提出了 HS 相关自身炎症性综合征的统称。

相似文献

1
Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.化脓性汗腺炎相关自身炎症性综合征:坏疽性脓皮病、痤疮和化脓性汗腺炎(PASH)、化脓性关节炎、坏疽性脓皮病、痤疮和化脓性汗腺炎(PAPASH)、滑膜炎、痤疮、脓疱病、骨质增生和骨炎(SAPHO)以及更罕见形式的临床、遗传学和治疗的最新综述
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2
Genetic mutations in pyoderma gangrenosum, hidradenitis suppurativa, and associated autoinflammatory syndromes: Insights into pathogenic mechanisms and shared pathways.化脓性汗腺炎、聚合性痤疮和相关自身炎症性综合征的遗传突变:对发病机制和共同途径的深入了解。
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Altered keratinization and vitamin D metabolism may be key pathogenetic pathways in syndromic hidradenitis suppurativa: a novel whole exome sequencing approach.综合征型化脓性汗腺炎中角蛋白化和维生素 D 代谢改变可能是关键的发病途径:一种新的全外显子组测序方法。
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Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) syndrome: a single-institution case series with a focus on management.坏疽性脓皮病、痤疮和化脓性汗腺炎(PASH)综合征:单机构病例系列,重点关注治疗。
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Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome.坏疽性脓皮病、痤疮和化脓性汗腺炎(PASH)——一种不同于 PAPA 综合征的新型自身炎症性综合征。
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引用本文的文献

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Case Report: Diagnostic difficulties, treatment, and association of the MEFV E148Q variant in a patient with PASH syndrome.病例报告:PASH综合征患者中MEFV E148Q变异体的诊断困难、治疗及关联
Front Med (Lausanne). 2025 Aug 8;12:1557540. doi: 10.3389/fmed.2025.1557540. eCollection 2025.
2
PAPASH Syndrome with a Pathogenic PSTPIP1 p.(Ala230Thr) Variant: A Case Report of Therapeutic Complexity.携带致病性PSTPIP1 p.(Ala230Thr)变异的PAPASH综合征:一例治疗复杂性病例报告
Acta Derm Venereol. 2025 Aug 18;105:adv43622. doi: 10.2340/actadv.v105.43622.
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Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa.
化脓性汗腺炎的基因组位点和分子遗传机制。
Br J Dermatol. 2025 Jul 12. doi: 10.1093/bjd/ljaf277.
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Management of Hidradenitis Suppurativa in Special Populations: A Narrative Review.特殊人群化脓性汗腺炎的管理:一项叙述性综述
Dermatol Ther (Heidelb). 2025 Jun 20. doi: 10.1007/s13555-025-01457-4.
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Plant-Based Foods for Chronic Skin Diseases: A Focus on the Mediterranean Diet.用于慢性皮肤病的植物性食物:聚焦地中海饮食。
Curr Nutr Rep. 2025 Mar 6;14(1):42. doi: 10.1007/s13668-025-00632-5.
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Leveraging genotypes and phenotypes to implement precision medicine in hidradenitis suppurativa management.利用基因型和表型在化脓性汗腺炎管理中实施精准医学。
Br J Dermatol. 2025 Feb 3;192(Supplement_1):i22-i29. doi: 10.1093/bjd/ljae399.
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J Eur Acad Dermatol Venereol. 2025 May;39(5):899-941. doi: 10.1111/jdv.20472. Epub 2024 Dec 19.
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