Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome

This literature review and case report investigate the link between pilomatricomas, benign tumors from hair follicle matrix cells, and genetic syndromes, identifying 96 cases associated with conditions like myotonic dystrophy and Turner syndrome. A novel association with Apert syndrome is highlighted through a case of a 15-year-old female with a pilomatricoma, revealing significant genetic mutations, including CTNNB1 and FGFR2 variants. These findings underscore the importance of genetic analysis for diagnosis and management, although no definitive link to increased malignancy risk is established. The study emphasizes pilomatricomas as potential markers for genetic syndromes and calls for further research into their molecular mechanisms.