A lady comes with melanotic pigmentation of lip, presence of multiple polyps in the intestine, and a positive family history. What is the most probable diagnosis?
Correct Answer: Peutz-Jegher's Syndrome
Description: Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamaomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition. Gardner syndrome, a variant of familial adenomatous polyposis (FAP), is an autosomal dominant disease characterized by GI polyps, multiple osteomas, and skin and soft tissue tumors. Cutaneous findingsof Gardner syndrome include epidermoid cysts, desmoid tumors, and other benign tumors. Turcot syndrome is a rare autosomal recessive disorder that can present with brain tumors (glioblastoma multiforme, medulloblastoma) and colonic adenomas that frequently become malignant in those younger than 30 years. Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal-dominant syndrome. It is divided into Lynch syndrome I (familial colon cancer) and Lynch syndrome II (HNPCC associated with other cancers of the gastrointestinal or reproductive system).
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