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Updated: Dec 12, 2025

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Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome
Ana Laura Andrade Bueno1, Maria Emilia Vieira de Souza1, Carla Graziadio2
1Dermatology 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.
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.
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