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与头皮多发性圆柱瘤相关的新型CYLD致病变异——病例报告

Novel CYLD pathogenic variant associated with multiple cylindromas of the scalp-A case report.

作者信息

P Amaral Inês, Soares Ivânia, P Correia Madalena, Correia Catarina, Vasconcelos Pedro, S Almeida Luis, Filipe Paulo

机构信息

Dermatology Department Unidade Local de Saúde - Hospital de Santa Maria Lisbon Portugal.

Faculty of Medicine University of Lisbon Lisbon Portugal.

出版信息

Skin Health Dis. 2024 Aug 10;4(5):e436. doi: 10.1002/ski2.436. eCollection 2024 Oct.

Abstract

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.

摘要

圆柱瘤是一种罕见的良性附属器肿瘤,主要发生于头皮和面部,女性发病率较高,通常在生命的第二个或第三个十年出现。这些肿瘤可表现为单个或多个结节,后者常与CYLD基因突变有关,尤其是在CYLD皮肤综合征的情况下。在此,我们报告一例61岁男性患者,其头皮出现多个圆柱瘤,促使进行基因检测,结果显示CYLD基因存在一种新的致病变异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbbd/11442051/314f71b94bb8/SKI2-4-e436-g002.jpg

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