Giant hamartomic colon polyp in a child with Peitz–Jaegers syndrome

Relevance. Peutz–Jeghers syndrome is an orphan variant of hereditary polyposis, which manifests itself by the formation of melanin spots on the mucous membrane, lips, and skin, as well as the formation of hamartomatous polyps in the gastrointestinal tract.

The aim of the work is to demonstrate a rare manifestation of Peutz–Jeghers syndrome with a single giant polyp in the colon.

Clinical observation. The patient’s parents first began to notice “freckles” in the nasolabial triangle at the age of two years. At the age of 6 years, streaks of blood appeared in the stool. The reason for contacting a medical specialist was the presence of blood clots in the stool several months later. The child was diagnosed with formations in the descending colon. The patient was referred for further examination and determination of treatment tactics.

Conclusion. Hamartomatous polyposis usually the manifests itself by the formation of multiple polyps along the gastrointestinal tract. In Peutz–Jeghers syndrome, the vast majority of polyps are formed in the small intestine and stomach, but in clinical practice, atypical manifestations of this disease may be encountered, requiring a multidisciplinary approach to determine the treatment tactics.

Contribution:
Korolev G.A., Lokhmatov M.M., Khvatova E.I., Dyakonova E.Yu. — the concept and design of the study;
Khvatova E.I., Korolev G.A., Budkina T.N., Oldakovskiy V.I., Tupylenko A.V., Khazykova D.V., Bekin A.S. — collection and processing of material, writing the text, editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: October 28, 2024
Accepted: December 06, 2024
Published: December 25, 2024

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