与头皮多发性圆柱状瘤相关的新型 CYLD 致病变体--病例报告。

Q3 Medicine
Skin health and disease Pub Date : 2024-08-10 eCollection Date: 2024-10-01 DOI:10.1002/ski2.436
Inês P Amaral, Ivânia Soares, Madalena P Correia, Catarina Correia, Pedro Vasconcelos, Luis S Almeida, Paulo Filipe
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引用次数: 0

摘要

圆柱状瘤是一种罕见的良性附件肿瘤,主要发生在头皮和面部,女性发病率较高,通常表现为生命的第二或第三个十年。这些肿瘤可表现为单发或多发结节,后者通常与 CYLD 基因突变有关,尤其是在 CYLD 皮肤综合征的背景下。在此,我们报告了一例 61 岁男性头皮多发性圆柱状瘤病例,该病例通过基因检测发现了 CYLD 基因中的一种新型致病变体。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Novel CYLD pathogenic variant associated with multiple cylindromas of the scalp-A case report.

Cylindromas are rare, benign adnexal neoplasms primarily found on the scalp and face, with a higher incidence in women and typically manifesting in the second or third decade of life. These tumours can present as single or multiple nodules, with the latter form often linked to CYLD gene mutations, particularly in the context of CYLD cutaneous syndrome. Here, we report a case of a 61-year-old male presenting with multiple cylindromas of the scalp, prompting genetic testing that revealed a novel pathogenic variant in the CYLD gene.

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来源期刊
CiteScore
1.70
自引率
0.00%
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