Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli Academic Article uri icon

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  • Pilomatrixomas are benign follicular tumors that occur most commonly in children. Rare multiple or familial pilomatrixomas have been associated with myotonic dystrophy and other disorders. Although sporadic pilomatrixomas and hybrid cutaneous cysts with pilomatrixoma-like features have been observed in some kindreds with Gardner syndrome, an autosomal dominant form of familial adenomatous polyposis, no definitive association has been made with multiple or familial pilomatrixomas. Here we describe two siblings with multiple pilomatrixomas who were also found to have a family history of colonic adenocarcinoma. Genetic testing revealed a mutation in the 5' portion of the adenomatous polyposis coli (APC) gene, in a region associated with an attenuated APC phenotype. These findings show that multiple pilomatrixomas may be the presenting symptom of patients with APC gene mutations.


  • Trufant, Joshua
  • Kurz, Wayne
  • Frankel, Amylynne
  • Muthusamy, Viswanathan
  • McKinnon, Wendy
  • Greenblatt, Marc
  • Lazar, Alex
  • Cook, Deborah
  • Bosenberg, Marcus

publication date

  • April 2012