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患有鲁宾斯坦-泰比综合征的双胞胎中的多发性毛发上皮瘤。

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome.

作者信息

Bueno Ana Laura Andrade, de Souza Maria Emilia Vieira, Graziadio Carla, Kiszewski Ana Elisa

机构信息

Dermatology Service, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil; Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil.

Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil; Discipline of Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

出版信息

An Bras Dermatol. 2020 Sep-Oct;95(5):619-622. doi: 10.1016/j.abd.2020.03.011. Epub 2020 Jul 15.

Abstract

Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.

摘要

毛母质瘤是起源于毛母质的良性肿瘤,可表现为单发损害,较少见的情况下也可为多发。强直性肌营养不良和家族性腺瘤性息肉病是与多发毛母质瘤最常相关的疾病。关于这些肿瘤与其他遗传综合征相关的报道很少。鲁宾斯坦-泰比综合征是一种罕见的常染色体显性疾病,其特征为智力障碍和典型的畸形特征。有5例关于多发毛母质瘤与鲁宾斯坦-泰比综合征相关的病例报告,这种关联需要进一步阐明。因此,我们报告了首例患有典型鲁宾斯坦-泰比综合征的单卵双胞胎发生多发毛母质瘤的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b86c/7563002/989ade54763b/gr1.jpg

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