WebFamilial adenomatous polyposis ( FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, … WebOct 18, 2014 · Congenital hypertrophy of retinal pigment epithelium (CHRPE) is one of its extra intestinal manifestations early in childhood seen, present in 90% of FAP population …

American Journal of Ophthalmology Case Reports

WebWhile there are reports of association of familial adenomatous polyposis and Gardner syndrome with similar bilateral, multiple, irregular fundus lesions, the typical solitary and multifocal forms of CHRPE are not associated with these diseases [5]. We describe the details of retinal imaging of all 3 varieties of WebLesions appearing like CHRPE but occurring in an irregular, multifocal, and bilateral distribution may represent the pigmented ocular fundus lesions seen in FAP or Gardner syndrome. These lesions are, however, distinct in that they tend to be smaller than CHRPE and are often tear-shaped or oval with a characteristic rim of surrounding ... flishcenter

Entry - #135290 - DESMOID DISEASE, HEREDITARY; DESMD

WebNational Center for Biotechnology Information WebDec 1, 2024 · Bilateral oval-shaped pigmentary lesions, so-called atypical CHRPE, are morphologically distinct, and their discovery is more typically associated with familial adenomatous polyposis (FAP), or Gardner syndrome. 6 These lesions are, however, distinct from the typical grouped CHRPE lesions of bear track configuration, although it is … WebBackground Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited colorectal cancer syndrome, caused by germline mutations in the APC gene. Recently, biallelic mutations in MUTYH have also been identified in patients with multiple great footage