caa a22 4500 445331224 CHVBK 20180317142738.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10689-011-9432-3 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9432-3 A new phenotypic manifestation of familial adenomatous polyposis [Elektronische Daten] [Daniel Edelstein, Francis Giardiello, Ali Basiri, Linda Hylind, Katharine Romans, Jennifer Axilbund, Marcia Cruz-Correa, Jessica Ramella-Roman] Familial adenomatous polyposis (FAP) is an autosomal dominant disease with hundreds of colorectal adenomas in teenagers and progression to colorectal cancer if colectomy is not performed. We investigated the association of two phenotypic manifestations-oral mucosal vascular density (OMVD) and oral mucosal reflectance (OMR)--with FAP and patients with multiple colorectal adenomas. Thirty-three patients with FAP from 29 unrelated pedigrees with APC gene mutation, 5 with multiple adenomas and no known gene mutations, and 50 population controls were evaluated for the two different manifestations utilizing a photographic/spectrophotometric system capturing images and reflectance at various wavelengths. Statistical analysis was performed with student t test and test performance characteristics were calculated. There were no significant differences in demographic variables between the FAP and control group. A significant difference in OMVD between FAP patients and controls was noted, P<0.001. The sensitivity and specificity of oral mucosal vascular density for FAP was 91 and 90%, respectively. No association between this phenotypic manifestation and age or gender was found. All 5 patient with multiple polyps were positive for OMVD and the value was significantly higher than controls, P=0.002. No significant difference was noted in OMR between the two patient groups and controls. OMVD is a new phenotypic manifestation in patients with FAP and also may identify those with multiple adenomas without known gene mutation. Springer Science+Business Media B.V., 2011 Familial adenomatous polyposis nationallicence Oral mucosal vascular density nationallicence Oral mucosal reflectance nationallicence Edelstein Daniel Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut Giardiello Francis Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut Basiri Ali The Catholic University of America, Washington, DC, USA aut Hylind Linda Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut Romans Katharine Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut Axilbund Jennifer Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut Cruz-Correa Marcia Department of Medicine and Cancer Center, University of Puerto Rico, San Juan, Puerto Rico aut Ramella-Roman Jessica The Catholic University of America, Washington, DC, USA aut Familial Cancer Springer Netherlands 10/2(2011-06-01), 309-313 1389-9600 10:2<309 2011 10 10689 https://doi.org/10.1007/s10689-011-9432-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9432-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Edelstein Daniel Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Giardiello Francis Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Basiri Ali The Catholic University of America, Washington, DC, USA aut NATIONALLICENCE 700 1- Hylind Linda Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Romans Katharine Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Axilbund Jennifer Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA aut NATIONALLICENCE 700 1- Cruz-Correa Marcia Department of Medicine and Cancer Center, University of Puerto Rico, San Juan, Puerto Rico aut NATIONALLICENCE 700 1- Ramella-Roman Jessica The Catholic University of America, Washington, DC, USA aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/2(2011-06-01), 309-313 1389-9600 10:2<309 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer