A patient presents with malena, hyperpigmentation over lips, oral mucosa and skin; and his sister is also having similar complaints. The diagnosis is :
Correct Answer: Peutz Jegher's Syndrome
Description: Answer is A (Peutz Jegher's Syndrome) : Peutz Jegher's Syndrome is a rare autosomal dominant disorder in which perioral and labial pigmented macules, occur in association with jejunal polyps. Presence of malena may reflect polyps in jejunum. Similar complains in sister indicate the hereditary nature of this disorder. Together these features confirm the diagnosis. 'Pigmentation' is not a feature with Gardener's and FAP, nor with villous adenoma. Heriditable (Autosomal dominant) Gastrointestinal polvposis syndromes : Neoplastic polyps: Multiple Adenomalous polyps (Adenomas) - are a very common risk factor for colorectal malignancy. Infact if the polyposis is not treated surgically, colorectal cancer will develop in almost all patients (100%), before age 40 Clues to diagnosis: Adenomas in large intestine with no associated lesions Familial Polyposis coil Adenomas in large intestine associated with osteomas, fibromas or Gardner's Syndrome Adenomas in large intestine associated with brain Turcot's syndrome Non-Neoplastic Polyps: Peutz Jegher's syndrome and Juvenile polyposis, are two autosomal dominant, heritable conditions, associated with polyps in G.I.T. These polyps are however harmatomas and do not have malignant potential. Clues to their diagnosis: Hamaomatous polyps throughout GIT associated with mueocutaneous Peutz Jeghers Syndrome pigmentation and tumors of pancreas ovary, breast, lung, uterus. (in small intestineQ>Large intestineQ>StomachQ) Hamaomatous polyps throughout GIT associated with various Juvenile Polyposis congenital anomalies. (in large IntestineQ> small intestineQ> stomachQ)
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