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Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli
Author(s) -
Trufant Joshua,
Kurz Wayne,
Frankel Amylynne,
Muthusamy Viswanathan,
McKin Wendy,
Greenblatt Marc,
Lazar Alex,
Cook Deborah,
Bosenberg Marcus
Publication year - 2012
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/j.1600-0560.2011.01836.x
Subject(s) - familial adenomatous polyposis , adenomatous polyposis coli , pathology , medicine , pilomatrixoma , phenotype , gardner syndrome , gene , genetics , biology , cancer , colorectal cancer
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 J, Kurz W, Frankel A, Muthusamy V, McKinnon W, Greenblatt M, Lazar A, Cook D, Bosenberg M. Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.

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