Peutz-Jeghers syndrome case study one

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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]

Case Report

  • Young patient with hyperpigmentation of oral mucosa.[1]
  • Family and patient tested for Peutz-Jeghers syndrome STK11 mutation.
    • 10 out of 14 family members were diagnosed with Peutz-Jeghers syndrome.
  • Patient was discovered to have polys in the stomach.
  • Patient recovered well.

References

  1. Duan, Shou-Xing; Wang, Guang-Huan; Zhong, Jun; Ou, Wen-Hui; Fu, Ma-Xian; Wang, Fu-Sheng; Ma, Shu-Hua; Li, Jian-Hong (2017). "Peutz–Jeghers syndrome with intermittent upper intestinal obstruction". Medicine. 96 (17): e6538. doi:10.1097/MD.0000000000006538. ISSN 0025-7974.