Peutz-Jeghers syndrome

A genetic condition characterized by polyps in the intestines and freckle-like spots on the lips, mouth and fingers. People with Peutz-Jeghers syndrome are at increased risk for cancerous tumors of the colon, rectum, stomach, ovary and pancreas. The polyps may occur in any part of the gastrointestinal tract but polyps in the jejunum (in the small intestine) are a consistent feature of the disease. Intussusception (telescoping of the bowel) and intestinal bleeding are the usual symptoms. Peutz-Jeghers syndrome is inherited as an autosomal dominant trait. Mutations of a gene in chromosome 19p13.3 cause the syndrome. The gene, known variously as STK11, PJS, or LKB1, is serine/threonine protein kinase-11. In 1921 Peutz was the first to recognize the familial association of gastrointestinal polyps and spots. A review by Jeghers et al. in The New England Journal of Medicine in 1949 put the polyps-and-spots syndrome "on the map."

* * *

Peutz-Je·ghers syndrome 'pə(r)ts-'jā-gərz-, 'pǣts- n a familial polyposis inherited as an autosomal dominant trait and characterized by numerous polyps in the stomach, small intestine, and colon and by melanin-containing spots on the skin and mucous membranes esp. of the lips and gums

Peutz 'pǣts J. L. A. (1886-1957)

Dutch physician. Peutz published the first detailed description of Peutz-Jeghers syndrome in 1921. Some of the symptoms had been described by British physician Sir Jonathan Hutchinson in 1896.

Jeghers Harold Joseph (1904-1990)

American physician. Jeghers successively served on the medical faculties of Boston University, Georgetown University, New Jersey College of Medicine and Dentistry, and Tufts University. He also held concurrent positions with several hospitals in Boston, Washington, D.C., and Jersey City, New Jersey. His last position was that of director of St. Vincent Hospital in Worcester, Massachusetts. His topics of research included nutrition, especially vitamin A deficiency, renal function, and skin pigmentation. He published his description of Peutz-Jeghers syndrome with V. A. McKusick and K. H. Katz in 1949.

* * *

a hereditary disorder in which the presence of multiple polyp in the lining of the small intestine (intestinal polyposis) is associated with pigmented areas (similar to freckles) around the lips, on the inside of the mouth, and on the palms and soles. The polyps may bleed, resulting in anaemia, or may cause obstruction of the bowel. Half of those affected develop malignant tumours (not necessarily of the bowel).

J. L. A. Peutz (1886-1957), Dutch physician; H. J. Jeghers (1904- ), US physician

* * *

Peutz-Jeg·hers syndrome (pootzґ jaґgerz) [J.L.A. Peutz, Dutch physician, 1886–1957; Harold Jeghers, American physician, 1904–1990] see under syndrome.