Excised polyps presented as benign hamartomas, without malignant alteration. Mucocutaneous pigmentations were present in 4 patients. Family history was revealing in only 2 cases. [ncbi.nlm.nih.gov]

All presented with intermittent abdominal pain and other upper abdominal symptoms such as bloating and nausea. [sages.org]

• Intestinal Disease

  CT and MR techniques have the added advantage that both offer the capability of imaging extra-intestinal disease associated with many of the colon polyposis syndromes. [suprepkit.com]

• Dysgeusia

  Hypogeusia or dysgeusia, progressive anorexia, xerostomia, or neurologic symptoms (such as seizures) has also been reported [3], although our patient did not have these symptoms. [file.scirp.org]

• Alopecia

  A 62-year-old Malaysian woman presented with a constellation of skin signs including alopecia, hyperpigmentation and nail dystrophy. On questioning, a history of diarrhoea, taste disturbance and weight loss was found. [ncbi.nlm.nih.gov]

  The unique ectodermal abnormalities of CCS include alopecia, onychodystrophy and diffuse skin hyperpigmentation. Alopecia can involve scalp, eyebrows, axillae, pubic areas, and extremities, and eventually complete hair loss in some patients. [file.scirp.org]

  Cronkhite-Canada syndrome Cronkhite-Canada syndrome is a clinical syndrome with high mortality that presents with the following: Generalized GI polyposis (sparing the esophagus) Dermal pigmentation and atrophy of the nail beds, alopecia Other characteristics [emedicine.medscape.com]

  Cronkhite-Canada syndrome Cronkhite-Canada syndrome includes generalized GI polyposis in association with neuroectodermal changes consisting of alopecia, hyperpigmentation, and atrophy of the nails. [suprepkit.com]

• Retinal Lesion

  lesions are frequently found; carcinoma of the colon almost invariably develops in untreated cases; autosomal dominant inheritance, caused by mutation in the adenomatous polyposis coli gene ( APC ) on 5q. [medical-dictionary.thefreedictionary.com]

• Myopathy

  Cutaneous features frequently include freckling of the glans penis (85% of male patients), lipomas (70% of patients), myopathy (60% of patients), hamartomatous GI polyps (45% of patients), hemangiomata (10% of patients), and telangiectasias. [emedicine.medscape.com]

  BRRS patients have, in addition to their hamartomatous intestinal polyposis, macrocephaly, lipomas, hemangiomas, lipid myopathy, mental deficiency, craniofacial anomalies, and pigmented macules on the shaft and glans of the penis [ 1, 3, 6, 7, 10 ]. [omicsonline.org]

• Brachydactyly

  […] rib anomalies GI - Hamartomatous gastric polyps, lymphomesenteric cysts GU - Ovarian fibromas and carcinomas CNS - Congenital hydrocephalus, mental retardation, medulloblastoma Skeletal - Scoliosis, kyphoscoliosis, cervical anomalies, rib anomalies, brachydactyly [emedicine.medscape.com]

• Polyps

  A subgroup of patients will develop periampullary carcinoma, again arising from the presence of adenomatous polyps. Such a case is presented. These polyps should be surgically excised to ensure adequate pathologic examination. [ncbi.nlm.nih.gov]

  Polyps are first seen around puberty, and by age 35 years 95 per cent of patients have polyps. Without colectomy, colon cancer is inevitable. Extracolonic manifestations may also be present. [medical-dictionary.thefreedictionary.com]

  Polyp Development Polyps in classic FAP develop during the first and second decade of life. Polyp development in classic FAP occurs in the rectosigmoid. Polyps less than 2 mm are often difficult to see without dye spray. [clinicaladvisor.com]

BACKGROUND: Colorectal cancer is one of the most common cancers in the world, with overall mortality exceeding 40% even with treatment. [ncbi.nlm.nih.gov]

These situations can fall into a gray area, not only for diagnosis, but also for the correct treatment and follow-up. New developments in pathophysiology and treatment options are leading to new questions. [books.google.de]

Prognosis - Attenuated familial adenomatous polyposis Not supplied. Treatment - Attenuated familial adenomatous polyposis Resources - Attenuated familial adenomatous polyposis [checkorphan.org]

[…] there are currently no methods to prevent it Please find comprehensive information on Familial Adenomatous Polyposis Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis [dovemed.com]

- Prognosis - poor [histopathology-india.net]

Prognosis Colon cancer will develop in all affected individuals unless prophylactic colectomy is performed. After total colectomy with ileo-rectal anastomosis, the recurrence rate is 30% after 20 years and 45% after 30 years. [patient.info]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The etiology of CCS is still obscure, but an autoimmune process has been suggested. [file.scirp.org]

Table 18: Cowden’s Disease Table 19: Ruvalcaba-Myhre-Smith Syndrome INTESTINAL GANGLIONEUROMATOSIS This disorder is heterogeneous in its genetic etiology and depends on the parent syndrome, as summarized in Table 20 ( 49 ). [nature.com]

Cronkite-Canada syndrome The etiology of CCS in unknown. As of now, no mutations causing the syndrome have been discovered, and familial predisposition is not evident. [emedicine.medscape.com]

This article examines the epidemiology, clinical presentation, genetic basis, differential diagnosis, endoscopic and surgical management of FAP. [utah.pure.elsevier.com]

[…] general Autosomal dominant familial polyposis syndrome due to a defect in the APC gene (5q21) which prototypically results in numerous ( > 100) colonic adenomatous polyps Terminology Also known as familial polyposis coli or adenomatous polyposis coli Epidemiology [pathologyoutlines.com]

Epidemiology The incidence of familial polyposis of the colon is about 1 in 10,000 live births [ 1 ]. Colonic polyps begin developing at a mean age of 15 years [ 1 ]. [patient.info]

Goto, A. (1995) Cronkhite-Canada Syndrome: Epidemiological Study of 110 Cases Reported in Japan. GekaHokan, 64, 3-14. [file.scirp.org]

This alternative pathway is not associated with the APC gene and leads to a CpG island methylator phenotype carcinoma. [15] Epidemiology Frequency United States The frequency depends on the specific syndrome and does not vary drastically between the United [emedicine.medscape.com]

New developments in pathophysiology and treatment options are leading to new questions. [books.google.de]

Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 126. [medlineplus.gov]

[…] epithelium [CHRPE]) or juvenile nasopharyngeal angiofibromas Gardner syndrome encompasses the subset of FAP patients with extraintestinal tumors Turcot syndrome encompasses the subset of FAP patients with brain tumors, which are typically medulloblastomas Pathophysiology [pathologyoutlines.com]

Although its inheritance is unclear, hereditary and sporadic cases have been described in the literature. [15] Pathophysiology With the exception of Cronkhite-Canada Syndrome, all of the intestinal polyposis syndromes have been associated with genetic [emedicine.medscape.com]

Effective efforts for screening and prevention are most likely to succeed in patient groups identified as high risk for colorectal cancer, most notably the hereditary intestinal polyposis syndromes. [ncbi.nlm.nih.gov]

signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE. [dovemed.com]

Maintaining a healthy diet can help prevent the development of colonic polyps. This includes eating more fruits, vegetables, whole grains, and lean meat. You may also be able to prevent polyps by increasing your intake of vitamin D and calcium. [healthline.com]

Longer-term studies may also help answer whether the drug combination prevents new polyps from forming in addition to shrinking existing polyps. [cancer.gov]