Document Detail


Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli.
MedLine Citation:
PMID:  22150579     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Joshua Trufant; Wayne Kurz; Amylynne Frankel; Viswanathan Muthusamy; Wendy McKinnon; Marc Greenblatt; Alex Lazar; Deborah Cook; Marcus Bosenberg
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-12-12
Journal Detail:
Title:  Journal of cutaneous pathology     Volume:  -     ISSN:  1600-0560     ISO Abbreviation:  -     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-12-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0425124     Medline TA:  J Cutan Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 John Wiley & Sons A/S.
Affiliation:
Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA Office of the Medical Examiner, Largo, FL, USA Department of Dermatology, Mount Sinai School of Medicine, New York, NY, USA Department of Dermatology, Yale School of Medicine, New Haven, CT, USA Department of Medicine and Familial Cancer Program, University of Vermont and Fletcher Allen Health Care, Burlington, VT, USA Department of Pathology, MD Anderson Cancer Center, Houston, TX, USA Department of Pathology, University of Vermont and Fletcher Allen Health Care, Burlington, VT, USA.
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