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.

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Publication Details

Journal
Russian Pediatric Journal
Published
2024-12-24
DOI
https://doi.org/10.46563/1560-9561-2024-27-6-452-456
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

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

M.M. Lokhmatov, T.N. Budkina, Elena Yu. Dyakonova, Аleksandr S. Bekin et al.
Russian Pediatric Journal
Genetic factors in colorectal cancer
article

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

M.M. Lokhmatov, T.N. Budkina, Elena Yu. Dyakonova, Аleksandr S. Bekin, Grigoriy A. Korolev, V. I. Oldakovsky, A. V. Tupylenko, Elisaveta I. Khvatova
article en

Abstract

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.

Russian Pediatric JournalVol. 27(6)
Sechenov University (RU), Center for Children (US)
Good health and well-being
Openalex Percentile: Top 61%
Genetic factors in colorectal cancer
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