Gardner syndrome is a variant of Familial Adenomatous Polyposis (FAP) characterized by multiple, bilateral atypical CHRPE. TRIAD=intestinal polyps+skeletal hamartomas+soft tissue tumours (cysts, neurofibromas, etc). Over 50% will have dental anomalies. This condition can be seen as early as childhood and patients will develop colon cancer if left untreated.
‘Freckles’ on his retina prompts a man to get himself tested for colon cancer
Above a composite drawing showing a close-up image of a freckle CHRPE on the retina of a patient with colon polyp syndrome. CHRPE has a “statistically significant” correlation with hereditary colon polyps known as familial adenomatous polyposis, or FAP. It may be that the freckles are caused by the same genetic mutation that produces the polyps.
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is usually found before patients reach 30 years of age. They may enlarge with time, but are not commonly associated with malignant transformation. There has been an association made between people with Gardner's Syndrome (familial colonic polyposes) and CHRPE.
Lipomas are adipose tumors that are often located in the subcutaneous tissues of the head, neck, shoulders, and back. Lipomas have been identified in all age groups but usually first appear between 40 and 60 years of age. These slow-growing, nearly always benign, tumors usually present as nonpainful, round, mobile masses with a characteristic soft, doughy feel. Rarely, lipomas can be associated with syndromes such as hereditary multiple lipomatosis, adiposis dolorosa, Gardner's syndrome, and…
congenital hypertrophy of the retinal pigment epithelium (CHRPE) •Represents enlargement of RPE cells •Usually very dark clinically they are asymptomatic although careful plotting of the visual field may show absolute scotoma corresponding to the lesion. Patients with bilateral multiple lesions (bear tracking) may have Gardner's syndrome, FAP. More common temporally. Most CHRPE lesions also feature a pigmented or nonpigmented halo just inside the margin of the lesion
Malattia autosomica dominante caratterizzata da poliposi multipla con tendenza alla degenerazione maligna, fibromi e lipomi sottocutanei, esostosi ed osteomi delle ossa del cranio e della faccia e cisti epidermiche da inclusione