Peutz-Jeghers syndrome overview
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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.
Causes
Peutz-Jeghers syndrome is caused by a mutation in the STK11 (LKB1) tumor suppressor gene.[1]
Differentiating Peutz-Jeghers Syndrome from other Diseases
Peutz-Jeghers syndrome must be differentiated from other diseases that cause hamartomatous polyps and mucocutaneous pigmentation, such as Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and juvenile polyposis.
Epidemiology and Demographics
The incidence of Peutz-Jeghers syndrome is approximately 0.03 to 4 per 100,000 individuals worldwide.
References
- ↑ JReferences Jenne DE, et al. 'Peutz-Jeghers Syndrome Is Caused By Mutations In A Novel Serine Threonine Kinase. - Pubmed - NCBI'. Ncbi.nlm.nih.gov. N.p., 2015. Web. 9 Sept. 2015..