Peutz Jehger's disease = داء بوتز جيغرز |
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Peutz-Jeghers Syndrome
PJS is an autosomal dominant cancer predisposition syndrome first described by Peutz (1921) and Jeghers (1949). Mucocutaneous pigmentation and intestinal hamartomatous polyposis are hallmarks of the disease . The pigmentary lesions resemble those of Carney complex, with small hyperpigmented macules typically appearing in childhood (not present at birth) on the lips and buccal mucosa but they may also involve the eyelids, hands, and feet. The most common malignancies associated with PJS are gastrointestinal (small intestine, colorectal, stomach, pancreas). In addition, nongastrointestinal neoplasms such as breast, cervix, and endocrine tumors (thyroid, testicular, ovarian) have been described. More than one-half of all cases of PJS can be attributed to a mutation in the serine/threonine kinase 11 (STK 11 or LKB 1) gene, which is therefore thought to act as a tumor suppressor gene. Close surveillance of PJS patients from a young age is warranted. For Bannayan-Riley-Ruvalcaba syndrome, see on-line version
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