Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic clues.

ABSTRACT: Pilomatricoma is a rare benign neoplasm originating from hair cortex cells and typically manifests in children as a slow-growing bluish-red, superficial and firm mass. Multiple pilomatricomas can be associated with genetic mutations and syndromic disorders, most commonly with Rubinstein-Taybi syndrome, Gardner syndrome, myotonic dystrophy, Turner syndrome, and Sotos syndrome. Ultrasound examination allows this tumor to be characterized, to assess the involvement of deeper structures and to plan treatment. Pilomatricoma shows some distinctive ultrasonographic features that aid in its diagnosis and it may be seen on ultrasound as an ovoid complex mass. Complications and malignant transformation of pilomatricomas have been described as a possible tumor evolution, and surgical resection is rec

SUBMITTER: Battaglia L 

PROVIDER: S-EPMC12033402 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature