Format

Send to

Choose Destination
See comment in PubMed Commons below
J Cutan Pathol. 2012 Apr;39(4):440-3. doi: 10.1111/j.1600-0560.2011.01836.x. Epub 2011 Dec 12.

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

Author information

1
Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA.

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.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Support Center