Peutz-Jeghers syndrome

From WikiLectures

Peutz-Jeghers syndrome is an inherited disease that is a hereditary tumor syndrome. It was named after the American internist Harold Joseph Jeghers and the Dutch internist Johann Laurent Augustin Peutz.

It is an autosomal dominant disease. It is most often caused by a mutation in the serine / threonine kinase gene STK11 on the short arm of chromosome 19.

Typical symptoms are numerous melanin pigmentations in the mouth, lip red and oral mucosa. Similar spots appear on the fingertips, eyelids and nasal wings. The syndrome is also characterized by numerous polyps in the large intestine, which predisposes patients affected in this way to a higher incidence of colorectal cancer. Complications can also be ileus or recurrent gastrointestinal bleeding.

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Reference[edit | edit source]

  1. ENERSEN, Ole Daniel. Whonamedit? : Peutz-Jeghers syndrome [online]. [cit. 2014-07-28] http://www.whonamedit.com/synd.cfm/1106.html
  2. CHAE, Hyun-Dong a Chang-Ho JEON. Peutz-Jeghers syndrome with germline mutation of STK11. Ann Surg Treat Res [online]. 2014, vol. 86, no. 6, s. 325-30, dostupné také z < https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062448/?tool=pubmed >. ISSN 2288-6575.

References[edit | edit source]

  • POVÝŠIL, Ctibor, Ivo ŠTEINER and Pavel DUŠEK, et al. Special pathology. 2nd edition. Prague: Galén, 2007. 430 p
  • CZECH REPUBLIC, Richard. Internal. 2nd edition. Stanislav Juhaňák - TRITON in Prague 2015, 2015. p. 439.