Peutz-Jeghers syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]
Overview
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.
Historical Perspective
- In 1895, Peutz-Jeghers syndrome was first discovered by Dr. Connor, a British physician, in identical twin sisters.[1][2]
- In 1921, the association between gastrointestinal polyposis with distinctive pigmentation of the skin and Peutz-Jeghers syndrome was made by Dr. Johannes Peutz of Holland.
- In 1949, Dr. Harold Jeghers of United States was the first to discover the association between combination of intestinal polyposis and skin pigmentation, and the development of Peutz-Jeghers syndrome.
- In 1954, A. Bruwer used the eponym Peutz-Jeghers syndrome.
- In 1998, serine/threonine-protein kinase 11 alias LKB1 (STK11/LKB1) gene mutations were first implicated in the pathogenesis of Peutz-Jeghers syndrome.
References
- ↑ Kopacova, Marcela; Tacheci, Ilja; Rejchrt, Stanislav; Bures, Jan (2009). "Peutz-Jeghers syndrome: Diagnostic and therapeuticapproach". World Journal of Gastroenterology. 15 (43): 5397. doi:10.3748/wjg.15.5397. ISSN 1007-9327.
- ↑ Giardiello, F; Trimbath, J (2006). "Peutz-Jeghers Syndrome and Management Recommendations". Clinical Gastroenterology and Hepatology. 4 (4): 408–415. doi:10.1016/j.cgh.2005.11.005. ISSN 1542-3565.