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Rare cases of Peutz-Jeghers syndrome in children

Сучасна педіатрія: Україна
Peutz-Jeghers syndrome is a genetic disease in which hamartomatous polyps of the gastrointestinal tract are detected, which leads to an elevated risk of developing colon cancer and other organs.
M.G. Melnychenko, V.O. Sytnikova, N.A. Dybchynska, L.B. Eliy   +3 more
doaj   +1 more source

Melæna massif révélant un syndrome de Peutz-Jeghers vu au CHU-JRA Madagascar: à propos d'un cas

The Pan African Medical Journal, 2016
Le syndrome de Peutz-Jeghers (SPJ) est caractérisé par l'association d'une polypose digestive hamartomateuse et d'une lentiginose cutanéo-muqueuse. Les malades sont exposés à des complications mécaniques et hémorragiques.
Andrianimaro Florelia Martinetti, Rasoanaivo Mamy Andriantsoa, Rajaonera Tovohery Andriambelo, Rakotoarison Ratsaraharimanana Cathérine Nicole, Raveloson Nasolotsiry Enintsoa   +4 more
doaj   +1 more source

Peutz-Jeghers sendromu

Ege Tıp Dergisi, 2016
Peutz-Jeghers sendromu (PJS), otozomal dominant gecis gosteren, mukokutanoz pigmentasyon ve gastrointestinal poliplerin goruldugu bir hastaliktir. Yuvarlak, oval, duzgun olmayan, 1-5 mm capindaki kahverengi pigmentasyonlar oral mukoza, dis eti, damak ve dudaklarda yerlesim gosterir.
Yılmaz, Tuğba Han, Avcı, Tevfik, Erol, Varlık, Gülay, Hüseyin   +3 more
openaire   +2 more sources

Intraoperative endoscopy-assisted tumor debulking in pediatric peutz-jeghers syndrome with early onset massive polyp burden phenotype

Journal of Pediatric Surgery Case Reports, 2022
Peutz-Jeghers Syndrome is an autosomal dominant disorder linked to abnormalities in STK11, and is associated with mucocutaneous pigmentation, sex cord tumors, and gastrointestinal polyps. While it is extremely rare in children under the age of 2, several
Maria E. Tecos, Matthew Ballweg, Andrew Huang-Pacheco, Angela Hanna, Abdalla Zarroug, Patrick Thomas   +5 more
doaj   +1 more source

Peutz-Jeghers syndrome, telangiectasias, and mitral valve prolapse. Case presentation and genetic counseling

Revista Habanera de Ciencias Médicas, 2021
Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness.
Ana Elena Arús Fernández, Enrique Arús Soler   +1 more
doaj  

Solitary Peutz Jeghers Polyp Causing Jejunal-Jejunal Intussusception in 6-Year-Old Female Child [PDF]

National Journal of Laboratory Medicine, 2013
Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant syndrome characterised by the familial occurrence of gastrointestinal hamartomatous polyps in association with mucocutaneous hyperpigmentation.
Khushboo Birla, Sunita Sanjay Dantkale, Hemlata Kamra, Pankaj W. Sakinlawar, Swapnil D. Chandekar   +4 more
doaj   +1 more source

Solitary Peutz-Jeghers type hamartomatous polyps in the duodenum are not always associated with a low risk of cancer: two case reports

Journal of Medical Case Reports, 2011
Introduction A hamartomatous polyp without associated mucocutaneous pigmentation or a family history of Peutz-Jeghers Syndrome is diagnosed as a solitary Peutz-Jeghers type hamartomatous polyp.
Koide Tomoko, Takahashi Hirokazu, Sakamoto Yasunari, Iida Hiroshi, Tanaka Michio, Tsunemi Akisa, Saito Kumiko, Fujisawa Nobutaka, Takahata Ayako, Akimoto Keiko, Tsuzawa Kaoru, Suzuki Kaori, Hirai Mitsuru, Inamori Masahiko, Sekino Yusuke, Tokoro Chikako, Abe Yasunobu, Nakajima Atsushi, Maeda Shin, Koyama Shigeru   +19 more
doaj   +1 more source

Colorectal Cancer Screening in Hereditary and Familial High‐Risk Populations: Best Practices and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad, Francesc Balaguer, Elizabeth E. Half, Kevin J. Monahan, Elena M. Stoffel, Sonia S. Kupfer   +5 more
wiley   +1 more source

Peutz-Jeghers syndrome and sinonasal diseases: A case report and literature review

Ear, Nose & Throat Journal
Peutz-Jeghers syndrome is an unusual inherited intestinal polyposis syndrome associated with distinct mucocutaneous pigmentation. Peutz-Jeghers syndrome is known to show variable penetrance and clinical heterogeneity.
Seung Yong Park MD, Kyung Soo Kim MD, PhD, Hyun Jin Min MD, PhD   +2 more
doaj   +1 more source

Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five

Molecular Genetics & Genomic Medicine, 2020
Background Pathogenic variants in STK11, also designated as LKB1, cause Peutz–Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation changes, polyposis, and a high risk of cancer.
Thorkild Terkelsen, Ole H. Larsen, Søren Vang, Uffe B. Jensen, Friedrik Wikman   +4 more
doaj   +1 more source