<prompt> Cowden disease is characterized by the following EXCEPTFibrocystic disease of breast and breast cancerFacial trichilemmomasPotentially malignant intestinal polypsAcral keratosis  <response>: Ans. c Potentially malignant intestinal polyps Ref. Bailey and Love 25thpg. 94; Sabiston 18thTable 50-4COWDENS SYNDROME It is characterized by multiple hamartomas, breast tumors, gastrointestinal polyps, thyroid tumors. The presence of multiple trichilemmomas on the face and cobble-stoning of the oral mucosa points to the diagnosis of Cowdens disease multiple hamartoma syndrome due to mutations in the PTEN gene.Cowdens Syndrome Diagnostic CriteriaPathognomonic criteriaMajor criteriaMinor criteriaMucocutaneous lesionsBreast cancerThyroid lesionse.g.adenoma or goiterMultiple facial trichilemmomasThyroid cancer, especially follicular thyroid carcinomaMental retardationPapillomatous papulesMacroencephalyHamartomatous intestinal polypsMucosal lesionsHamartomatous outgrowths of cerebellum Lhermitte-Duclos diseaseFibrocystic disease of the breastAcral keratoses-Lipomas, fibromas--Genitourinary tumors or malformations Multiple hamartoma syndrome Cowden syndrome is association of GI-tract hamartomas with breast Ca, thyroid Ca, benign follicular appendage tumors trichilemmomas, and nodular gingival hyperplasia. Cronkhite-Canada syndrome is association of juvenile-type polyps and ectodermal abnormalities like alopecia, hyperpigmentation, and nail loss onycholysis. Thrcots syndrome refers to an association between brain tumors primarily medulloblastomas and gliomas and FAP Familial Adenomatous polyposis or HNPCC Hereditary nonpolyposis colorectal cancer. The majority of FAP- associated brain tumors are medulloblastomas, but gliomas have also been described. Patients with HNPCC are prone to high-grade gliomas. It is autosomal recessive and mainly occurs in teens. Gardners syndrome is autosomal dominant where colonic polyps are seen with prominent extraintestinal lesions. These include desmoid tumors, sebaceous or epidermoid cysts, lipomas, osteomas especially of the mandible, supernumerary teeth, gastric polyps, and juvenile nasopharyngeal angiofibromas. Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with mucocutaneous melanocytic macules.SyndromeGenes implicatedInheritanceAssociated tumours and abnormalitiesStrategies for preventionearly diagnosisFamilial adenomatous polyposis FAP Gardner syndromeAPC geneDColorectal cancer under the age of 25 years Papillary carcinoma of the thyroid Cancer of the ampulla of vaterHepatoblastomas primary brain tumours Turcots sydrome Osteomas of the jaw CHRPE congenital hypertrophy of the retinal pigment epitheliumProphylactic panproctocoloectomyHereditary non- polyposis colorectal cancer HNPCC HNPCC1HNPCC2HNPCC3DNA mismatch repair genes MLHT, MSH2, MSH6MSH2MLH1PMS1DColorectal cancer typically in the 40s and 50sEndometrium,stomach hepatobiliary Lynchs syndrome 1Surveillance colonoscopies polypectomies Non- steroidal anti- inflammatory drugsPeutz-jeghers syndromeSTK11DBowel cancer, breast cancer, freckles round the mouthSurveillance colonoscopy mammographyCowdens syndromePTENDMultiple hamartomas of skin, breast and mucus membranes Breast cancerNeuroendocrine tumoursEndometrial cancer, thyroid cancerActive SurveillanceRetinoblastomaRBDRetinoblastoma pinealoma OsteosarcomaSurveillance of the uninvolved eyeMultiple endocrine neoplasia MEN type 1MeninDParathyroid tumoursIslet cell tumous pituitary tumoursAwareness of associations and paying attention to relevant symptomsMEN type 2ARETDMedullary carcinoma of the thyroid phaeochro- mocytoma Parathyroid tumoursRegular screening of blood pressure,serum calcitonin and urinary catecholamines prophylactic thyroidectomy 