Cowden disease is characterized by the following EXCEPT
Correct Answer: Potentially malignant intestinal polyps
Description: Ans. c (Potentially malignant intestinal polyps) (Ref. Bailey and Love 25th/pg. 94; Sabiston 18th/Table 50-4)COWDEN'S 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 Cowden's disease (multiple hamartoma syndrome) due to mutations in the PTEN gene.Cowden's Syndrome Diagnostic CriteriaPathognomonic criteriaMajor criteriaMinor criteriaMucocutaneous lesionsBreast cancerThyroid lesions(e.g.adenoma or goiter)Multiple facial trichilemmomasThyroid cancer, especially follicular thyroid carcinomaMental retardationPapillomatous papulesMacroencephalyHamartomatous intestinal polypsMucosal lesionsHamartomatous outgrowths of cerebellum (Lhermitte-Duclos disease)Fibrocystic 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).# Thrcot's 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.# Gardner's 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.SyndromeGene(s) implicatedInheritanceAssociated tumours and abnormalitiesStrategies for prevention/early 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 (Turcot's sydrome) Osteomas of the jaw CHRPE (congenital hypertrophy of the retinal pigment epithelium)Prophylactic panproctocoloectomyHereditary non- polyposis colorectal cancer (HNPCC) HNPCC1HNPCC2HNPCC3DNA mismatch repair genes (MLHT, MSH2, MSH6)MSH2MLH1PMS1DColorectal cancer (typically in the 40s and 50s)Endometrium,stomach hepatobiliary (Lynch's syndrome 1)Surveillance colonoscopies/ polypectomies Non- steroidal anti- inflammatory drugsPeutz-jeghers syndromeSTK11DBowel cancer, breast cancer, freckles round the mouthSurveillance colonoscopy mammographyCowden's 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
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