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PAPASH Syndrome with a Pathogenic PSTPIP1 p.(Ala230Thr) Variant: A Case Report of Therapeutic Complexity.

作者信息

Tikka Meri, Ilves Tiina

机构信息

Dermatology Department, Mikkeli Central Hospital, Mikkeli, Finland.

出版信息

Acta Derm Venereol. 2025 Aug 18;105:adv43622. doi: 10.2340/actadv.v105.43622.

DOI:10.2340/actadv.v105.43622
PMID:40824161
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12376380/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd72/12376380/04c1a19a4e4e/ActaDV-105-43622-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd72/12376380/9c34675b773e/ActaDV-105-43622-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd72/12376380/17014773919d/ActaDV-105-43622-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd72/12376380/04c1a19a4e4e/ActaDV-105-43622-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd72/12376380/9c34675b773e/ActaDV-105-43622-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd72/12376380/17014773919d/ActaDV-105-43622-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd72/12376380/04c1a19a4e4e/ActaDV-105-43622-g003.jpg

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本文引用的文献

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
Dermatol Clin. 2024 Apr;42(2):247-265. doi: 10.1016/j.det.2023.12.004. Epub 2024 Jan 4.
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。
J Dermatol. 2024 Feb;51(2):160-171. doi: 10.1111/1346-8138.17028. Epub 2023 Nov 30.
3
Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.10 例综合征性化脓性汗腺炎患者的全外显子组测序：进行基因型-表型相关性研究的初步步骤。
Dermatology. 2022;238(5):860-869. doi: 10.1159/000521263. Epub 2022 Jan 14.
4
Case Report: PsAPSASH syndrome: an alternative phenotype of syndromic hidradenitis suppurativa treated with the IL-17A inhibitor secukinumab.病例报告：PsAPSASH 综合征：一种综合征性化脓性汗腺炎的替代表型，用 IL-17A 抑制剂司库奇尤单抗治疗。
F1000Res. 2021 May 13;10:381. doi: 10.12688/f1000research.52100.2. eCollection 2021.
5
PASH, PAPASH, PsAPASH, and PASS: The autoinflammatory syndromes of hidradenitis suppurativa.PASH、PAPASH、PsAPASH 和 PASS：化脓性汗腺炎的自炎症综合征。
Clin Dermatol. 2021 Mar-Apr;39(2):240-247. doi: 10.1016/j.clindermatol.2020.10.016. Epub 2020 Oct 16.
6
Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.PSTPIP1 相关自身炎症性疾病中 PSTPIP1 序列变异的表型关联。
J Invest Dermatol. 2021 May;141(5):1141-1147. doi: 10.1016/j.jid.2020.08.028. Epub 2020 Nov 18.
7
Phenotypes and Pathophysiology of Syndromic Hidradenitis Suppurativa: Different Faces of the Same Disease? A Systematic Review.综合征型化脓性汗腺炎的表型和病理生理学：同一种疾病的不同表现？系统综述。
Dermatology. 2021;237(5):673-697. doi: 10.1159/000509873. Epub 2020 Sep 17.
8
A Unified Concept of Acne in the PAPA Spectrum Disorders.PAPA 谱系疾病中痤疮的统一概念。
Dermatology. 2021;237(5):827-834. doi: 10.1159/000509874. Epub 2020 Sep 16.
9
PAPA, PASH and PAPASH Syndromes: Pathophysiology, Presentation and Treatment.PAPA、PASH和PAPASH综合征：病理生理学、临床表现及治疗
Am J Clin Dermatol. 2017 Aug;18(4):555-562. doi: 10.1007/s40257-017-0265-1.
10
Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).坏疽性脓皮病及其综合征形式（坏疽性脓皮病、痤疮和化脓性汗腺炎）中的自身炎症。
Br J Dermatol. 2017 Jun;176(6):1588-1598. doi: 10.1111/bjd.15226. Epub 2017 Apr 16.