RESUMO
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) has been described in association with systemic disorders such as Gardner's syndrome (intestinal polyposis, osteomas, and benign soft-tissue tumors), Turgot's syndrome (glioma-polyposis syndrome) and familial adenomatous polyposis (FAP) of the colon. FamiIial adenomatous polyposis is an autosomal dominant disorder characterized by hundreds of polyps throughout the entire colon, and in all patients carcinoma of the color, develops at the age of 40 to 50 years. We describe a family with familial adenomatous polylpcsis coli and congenital hypertrophy of the retinal pigment epithelium. All of them except mother showed flat, weII-demarcated, round to oval pigmented patches of CHRPE. We emphasize the importance of CHRPE as a clinical marker in identifying patients With FAP since they are at risk for cancer.
Assuntos
Humanos , Polipose Adenomatosa do Colo , Biomarcadores , Colo , Síndrome de Gardner , Hipertrofia , Mães , Osteoma , Pólipos , Epitélio Pigmentado da Retina , RetinaldeídoRESUMO
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) has been described in association with systemic disorders such as Gardner's syndrome (intestinal polyposis, osteomas, and benign soft-tissue tumors), Turgot's syndrome (glioma-polyposis syndrome) and familial adenomatous polyposis (FAP) of the colon. FamiIial adenomatous polyposis is an autosomal dominant disorder characterized by hundreds of polyps throughout the entire colon, and in all patients carcinoma of the color, develops at the age of 40 to 50 years. We describe a family with familial adenomatous polylpcsis coli and congenital hypertrophy of the retinal pigment epithelium. All of them except mother showed flat, weII-demarcated, round to oval pigmented patches of CHRPE. We emphasize the importance of CHRPE as a clinical marker in identifying patients With FAP since they are at risk for cancer.