Peutz - Jeghers Syndrome: A Rare Familial Syndrome
International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
www.ijsr.net | Most Trusted Research Journal Since Year 2012

ISSN: 2319-7064



Case Studies | Pathology | India | Volume 9 Issue 9, September 2020

Peutz - Jeghers Syndrome: A Rare Familial Syndrome

N. Usha, B. H. Poornachandra Sekhar, B. V. Sai Prasad, B. Anuradha

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by mucocutaneous hyperpigmentation, intestinal and extraintestinal hamartomatous polyps with increased risk of gastrointestinal and extraintestinal malignancy. We report on a case of 16 years old male who presented with colicky abdominal pain, associated with nausea, vomiting for 4 days, which was relieved spontaneously. Patient also had 6 episodes of similar complaints in the past one year. The imaging studies revealed intussusception and large intestinal wall thickening. Intra operative findings show multiple polyps in both small and large intestine. A diagnosis of Peutz - Jeghers syndrome was made on characteristic histopathological examination of polypectomy specimens and presence of characteristic prominent mucocutaneous pigmentation.

Keywords: Peutz - Jeghers syndrome, Hamartomatous polyps, intussusceptions, melanotic macules

Edition: Volume 9 Issue 9, September 2020

Pages: 561 - 565

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How to Cite this Article?

N. Usha, B. H. Poornachandra Sekhar, B. V. Sai Prasad, B. Anuradha, "Peutz - Jeghers Syndrome: A Rare Familial Syndrome", International Journal of Science and Research (IJSR), https://www.ijsr.net/search_index_results_paperid.php?id=SR20907125841, Volume 9 Issue 9, September 2020, 561 - 565

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