File:Peutz jegher syndrome new photo for diagnosis.jpg
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[edit]DescriptionPeutz jegher syndrome new photo for diagnosis.jpg |
English: The syndrome was described in 1921 by Jan Peutz (1886-1957), a Dutch physician who noted a relationship between the intestinal polyps and the mucocutaneous macules in a Dutch family. [12] The dermatologic component had previously been reported by John McHutchinson in 1896 in identical twins, one of who subsequently died from intussusception.
Harold Jeghers (1904-1990), an American physician, is credited with the definitive descriptive reports of the syndrome when he published "Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits," in 1949, with McKusick and Katz. [13] The eponym Peutz-Jeghers syndrome was introduced by the radiologist Andre J Bruwer in 1954. [14] The gastrointestinal polyps found in Peutz-Jeghers syndrome are typical hamartomas. Their histology is characterized by extensive smooth muscle arborization throughout the polyp. [2, 15] This may give the lesion the appearance of pseudoinvasion, because some of the epithelial cells, usually from benign glands, are surrounded by the smooth muscle (the lack of dysplasia in the polyps help to differentiate pseudoinvasion from malignancy). [2, 15] Cancer develops in the gastrointestinal tract of patients with Peutz-Jeghers syndrome with a higher frequency than it does in the general population. [1, 10] However, this syndrome is also associated with increased breast, gynecologic, testicular, pancreatic, and thyroid papillary malignancy. [1, 2] About 48% of patients with Peutz-Jeghers syndrome develop and die from cancer by age 57 years. Others may have a normal life span. The mean age at first diagnosis of cancer is 42.9 years, ±10.2 years. [16, 17, 18] During the first 3 decades of life, anemia, rectal bleeding, abdominal pain, obstruction, and/or intussusception are common complications in patients with Peutz-Jeghers syndrome. [19, 20] Nearly 50% of the patients experience an intussusception during their lifetime, most commonly in the small intestine. [21] |
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Author | Masryyy |
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