CYLD皮肤综合征的特征是出现多种皮肤肿瘤，包括圆柱瘤、螺旋腺瘤、毛发上皮瘤和唾液腺基底细胞腺瘤，以及较少见的肺圆柱瘤。皮损出现在生命的第二个十年，通常表现为单个皮损，主要位于面部和头部，数量逐渐增加，可能影响躯干、腹股沟和腋窝。尽管病变可影响男性和女性，但据报道，女性受影响的频率更高。CYLD 皮肤综合征是由 CYLD 基因的致病性变异引起的，遵循常染色体显性遗传模式。我们介绍了哥伦比亚首例受 CYLD 皮肤综合征影响的家庭病例，该病例跨越了三代，其特征是皮肤损伤早发。该综合征通过下一代测序 (NGS) 得到分子证实，揭示了 CYLD 基因中的杂合移码变异，特别是 NM_015247.2 c.2291_2295delAACTA p.Lys764Ilefs*2 类型，随后通过 Sanger 测序得到证实。遗传、表观遗传和环境因素在圆柱瘤向鳞状小汗腺导管癌恶性转化过程中的相互作用对于开发靶向治疗和改善患者预后至关重要。哥伦比亚家庭中的 CYLD 皮肤综合征。© 作者；被许可人电子癌症医学科学。

The CYLD cutaneous syndrome is characterised by the appearance of multiple skin tumours, including cylindromas, spiradenomas, trichoepitheliomas and basal cell adenomas of the salivary gland and less frequently pulmonary cylindromas. The lesions appear in the second decade of life, typically present as single lesions, located mainly on the face and head and progressively increase in number, potentially affecting the torso, groin and axillae. Although lesions can affect both men and women, a higher frequency of affected women has been described.CYLD cutaneous syndrome is caused by pathogenic variants in the CYLD gene, following an autosomal dominant inheritance pattern. We present the first Colombian case of a family affected by CYLD cutaneous syndrome, spanning three generations and characterised by early onset of skin lesions. This syndrome was molecularly confirmed by next-generation sequencing (NGS), reveling a heterozygous frameshift variant in the CYLD gene, specifically the type NM_015247.2 c.2291_2295delAACTA p.Lys764Ilefs*2, which was subsequently confirmed by Sanger sequencing.Understanding the complex interplay of genetic, epigenetic and environmental factors in the malignant transformation of cylindroma to squamous eccrine ductal carcinoma is crucial for developing targeted therapies and improving patient outcomes.The CYLD cutaneous syndrome in a Colombian family.© the authors; licensee ecancermedicalscience.