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Kindler综合征一例偏心性病例的皮肤镜相关性

Dermoscopic Correlation of an Eccentric Case of Kindler Syndrome.

作者信息

Bansal Sarthak, Gupta Sanjeev, Jain Shachi, Gupta Aayush

机构信息

Dermatology, Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, IND.

出版信息

Cureus. 2024 Apr 16;16(4):e58433. doi: 10.7759/cureus.58433. eCollection 2024 Apr.

DOI:10.7759/cureus.58433
PMID:38765347
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11099494/
Abstract

Kindler syndrome (KS) is a rare autosomal recessive skin condition. The FERMT1 gene mutates and causes symptoms such as blistering and epidermal atrophy, as well as an increased risk of cancer and poor wound healing. A male in his 20s sought treatment for his hyper-hypopigmentation over the body with poikiloderma of the face with thin wrinkled cigarette paper skin in association with photosensitivity. He gave a history of developing blisters all over the body during his childhood, which formed raw areas and eventually healed forming atrophic scars. The objective is to assess the correlation of clinical findings with dermoscopy in a case of KS. KS is a rare disorder with poikiloderma, photosensitivity, and acral bullae in infancy as predominant features. Dermoscopy proves to be a useful tool in the diagnosis of this rare disorder as it helps in the identification of poikiloderma, adermatoglyphia, and cigarette paper scarring.

摘要

金德勒综合征(KS)是一种罕见的常染色体隐性皮肤病。FERMT1基因突变会导致水疱形成、表皮萎缩等症状,还会增加患癌风险以及导致伤口愈合不良。一名20多岁的男性因全身色素沉着异常、面部皮肤异色症伴薄皱的卷烟纸样皮肤以及光敏反应前来就医。他自述童年时全身出现水疱,形成创面,最终愈合形成萎缩性瘢痕。目的是评估1例金德勒综合征患者临床 findings与皮肤镜检查结果的相关性。金德勒综合征是一种罕见疾病,以婴儿期皮肤异色症、光敏反应和肢端大疱为主要特征。皮肤镜检查被证明是诊断这种罕见疾病的有用工具,因为它有助于识别皮肤异色症、无指纹症和卷烟纸样瘢痕。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/11099494/cdeb92daaed2/cureus-0016-00000058433-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/11099494/9a031a483799/cureus-0016-00000058433-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/11099494/a86e4035334c/cureus-0016-00000058433-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/11099494/0115ee60d923/cureus-0016-00000058433-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/11099494/cdeb92daaed2/cureus-0016-00000058433-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/11099494/9a031a483799/cureus-0016-00000058433-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/11099494/a86e4035334c/cureus-0016-00000058433-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/11099494/0115ee60d923/cureus-0016-00000058433-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf82/11099494/cdeb92daaed2/cureus-0016-00000058433-i04.jpg

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引用本文的文献

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Clin Med Insights Case Rep. 2025 May 27;18:11795476251342637. doi: 10.1177/11795476251342637. eCollection 2025.

本文引用的文献

1
Revertant mosaicism in Kindler syndrome.Kindler综合征中的回复性镶嵌现象。
J Invest Dermatol. 2012 Mar;132(3 Pt 1):730-2. doi: 10.1038/jid.2011.352. Epub 2011 Nov 17.
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Kindler syndrome.金德勒综合征。
Dermatol Clin. 2010 Jan;28(1):119-24. doi: 10.1016/j.det.2009.10.013.
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Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function.Kindler 综合征的发病机制和 Fermitin 家族同源物 1(kindlin-1)的功能。
Dermatol Clin. 2010 Jan;28(1):115-8. doi: 10.1016/j.det.2009.10.012.
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Kindler syndrome: a focal adhesion genodermatosis.金德勒综合征:一种粘着斑基因性皮肤病。
Br J Dermatol. 2009 Feb;160(2):233-42. doi: 10.1111/j.1365-2133.2008.08976.x. Epub 2008 Dec 11.
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Kindler syndrome: a new mutation and new diagnostic possibilities.金德勒综合征:一种新的突变及新的诊断可能性。
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Kindler syndrome: a case report and proposal for clinical diagnostic criteria.金德勒综合征:一例病例报告及临床诊断标准建议
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