Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.

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

Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA.

Journal of cutaneous pathology 2012 Apr

filter terms:

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. Copyright © 2011 John Wiley & Sons A/S.

Citation

Joshua Trufant, Wayne Kurz, Amylynne Frankel, Viswanathan Muthusamy, Wendy McKinnon, Marc Greenblatt, Alex Lazar, Deborah Cook, Marcus Bosenberg. Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli. Journal of cutaneous pathology. 2012 Apr;39(4):440-3