title: Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.
abstract: 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.
authors.affiliation: Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA.
authors.forename: Joshua
authors.initials: J
authors.lastname: Trufant
authors.forename: Wayne
authors.initials: W
authors.lastname: Kurz
authors.forename: Amylynne
authors.initials: A
authors.lastname: Frankel
authors.forename: Viswanathan
authors.initials: V
authors.lastname: Muthusamy
authors.forename: Wendy
authors.initials: W
authors.lastname: McKinnon
authors.forename: Marc
authors.initials: M
authors.lastname: Greenblatt
authors.forename: Alex
authors.initials: A
authors.lastname: Lazar
authors.forename: Deborah
authors.initials: D
authors.lastname: Cook
authors.forename: Marcus
authors.initials: M
authors.lastname: Bosenberg
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics / Q000473:pathology; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018296:Pilomatrixoma / Q000235:genetics / Q000473:pathology; D035781:Siblings; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein