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ALA-PDT 治疗伴发先天性Ⅱ型厚甲症和强直性脊柱炎的卵泡闭锁四联征。

ALA-iPDT for follicular occlusion tetrad concomitant with pachyonychia congenital type Ⅱ and ankylosing spondylitis.

机构信息

Institute of Photomedicine, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai 200092, PR China.

Institute of Photomedicine, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai 200092, PR China.

出版信息

Photodiagnosis Photodyn Ther. 2022 Sep;39:102891. doi: 10.1016/j.pdpdt.2022.102891. Epub 2022 Apr 29.

DOI:10.1016/j.pdpdt.2022.102891
PMID:35490959
Abstract

The follicular occlusion tetrad is a complex dermatologic syndrome which can concomitant with other diseases. The case reported a young male patient suffer from follicular occlusion tetrad (acne conglobata, hidradenitis suppurativa, dissecting cellulitis of the scalp, and pilonidal sinuses) concomitant with pachyonychia congenital type Ⅱ (thickened nails, palmoplantar keratoderma, multiple cysts) and ankylosing spondylitis (lumbago, human leukocyte antigen-B27 positive). The genetic analysis showed the KRT17 gene mutation on exon 1 (c.T284C) supports the diagnosis. Whereupon, a comprehensive therapy scheme of 5-aminolevulinic acid-mediated interstitial photodynamic therapy (ALA-iPDT) combined with surgery offered excellent response. This case reports a rare condition and proposes a therapeutic option that may work.

摘要

滤泡性闭锁四联征是一种复杂的皮肤科综合征,可并发其他疾病。本例报告了一名年轻男性患者,患有滤泡性闭锁四联征(聚合性痤疮、化脓性汗腺炎、头皮分离性蜂窝织炎和藏毛窦)并发先天性厚甲Ⅱ型(指甲增厚、掌跖角化过度症、多发性囊肿)和强直性脊柱炎(腰痛、人类白细胞抗原-B27 阳性)。基因分析显示 1 号外显子上的 KRT17 基因突变(c.T284C)支持诊断。随后,采用 5-氨基酮戊酸介导的间质光动力疗法(ALA-iPDT)联合手术的综合治疗方案取得了极佳的疗效。本病例报告了一种罕见的情况,并提出了一种可能有效的治疗选择。

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ALA-iPDT for follicular occlusion tetrad concomitant with pachyonychia congenital type Ⅱ and ankylosing spondylitis.ALA-PDT 治疗伴发先天性Ⅱ型厚甲症和强直性脊柱炎的卵泡闭锁四联征。
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Arch Dermatol Res. 2025 Apr 11;317(1):697. doi: 10.1007/s00403-025-04184-0.
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Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.《可能与化脓性汗腺炎相关的变异综合目录,包括来自 100 例患者队列的新鉴定变异》
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Clin Cosmet Investig Dermatol. 2024 Feb 1;17:279-285. doi: 10.2147/CCID.S445823. eCollection 2024.
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Treatments for Dissecting Cellulitis of the Scalp: A Systematic Review and Treatment Algorithm.头皮穿掘性蜂窝织炎的治疗:系统评价与治疗方案
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