Peutz-Jeghers syndrome overview: Difference between revisions
No edit summary |
No edit summary |
||
| Line 8: | Line 8: | ||
==Historical Perspective== | ==Historical Perspective== | ||
In 1998, ''[[STK11]]'' (''LKB1'') mutations were first identified in the pathogenesis of peutz-Jeghers syndrome. The syndrome is named after Jans Peutz (1886-1957), a Dutch physician and Harold Jeghers (1904-1990), an American physician who had successively described the association between polyposis and the mucocutaneous macules. | In 1998, ''[[STK11]]'' (''LKB1'') mutations were first identified in the pathogenesis of peutz-Jeghers syndrome. The syndrome is named after Jans Peutz (1886-1957), a Dutch physician and Harold Jeghers (1904-1990), an American physician who had successively described the association between polyposis and the mucocutaneous macules. | ||
==Pathophysiology== | |||
Peutz-Jeghers syndrome is transmitted in [[autosomal dominant]] pattern. | |||
== References == | == References == | ||
Revision as of 02:25, 16 September 2015
|
Peutz-Jeghers syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Peutz-Jeghers syndrome overview On the Web |
|
American Roentgen Ray Society Images of Peutz-Jeghers syndrome overview |
|
Risk calculators and risk factors for Peutz-Jeghers syndrome overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]
Overview
Peutz-Jeghers, also known as Hereditary Intestinal Polyposis Syndrome, is an autosomal dominant genetic disorder characterized by the appearance of multiple benign hamartomatous polyps in the gastrointestinal tract, which increase the risk of cancer in the gastrointestinal tract. It's also associated with hyperpigmented macules on the lips and oral mucosa (melanosis). The incidence of Peutz–Jeghers syndrome is approximately 1 in 25,000 to 300,000 births.
Historical Perspective
In 1998, STK11 (LKB1) mutations were first identified in the pathogenesis of peutz-Jeghers syndrome. The syndrome is named after Jans Peutz (1886-1957), a Dutch physician and Harold Jeghers (1904-1990), an American physician who had successively described the association between polyposis and the mucocutaneous macules.
Pathophysiology
Peutz-Jeghers syndrome is transmitted in autosomal dominant pattern.