welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Familial multiple pilomatrixomas as a presentation of attenuated adenomatosis polyposis coli
source: Journal of Cutaneous Pathology
year: 2012
authors: Trufant J, Kurz W, Frankel A, Muthusamy V, McKinnon W, Greenblatt M, Lazar A, Cook D, Bosenberg M
summary/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.
organization: Mount Sinai School of Medicine, New York, NY, USADOI: 10.1111/j.1600-0560.2011.01836.x
read more full text source
expertly curated content related to this topic
-
Live Chat About the FAP 310 Clinical Trialhttps://www.youtube.com/watch?v=tKHUFgyO...
-
like a pork chop in a synagogue (resilience)I've seen some stuff, I've done some stu...
-
New Combination Therapy Can Benefit Metastatic Colon CancerNew Combination Therapy Can Benefit Meta...
-
Desmoid Tumors: Clinical Features and Outcome of an Unpredictable and Challenging Manifestation of Familial Adenomat...Background/Aims: Desmoid tumors (DTs) ar...
-
Detection of Genetic Alterations in Hereditary Colorectal Cancer ScreeningThere are two major hereditary colorecta...
-
Myh-Associated Polyposis (Approved by the Cancer.Net Editorial Board)MYH-associated polyposis (MAP) is a here...
-
Ileal Pouch Anal Anastomosis in Pediatric familial Adenomatous Polyposis: A 24-Year Review of Operative Technique an...BACKGROUND : Total proctocolectomy with ...