clinendoКлиническая эндоскопияFilin’s Clinical endoscopy2415-7813"Global Media technology" Ltd10.31146/2415-7813-endo-66-4-23-30clinendo-187Research ArticleДЕТСКАЯ ЭНДОСКОПИЯPEDIATRIC ENDOSCOPYМногообразие синдромов гамартоматозного полипоза у детей и взрослых в практике врача эндоскопистаThe variety of hamartomatous polypose syndromes in children and adults in the practice of an endoscopisthttps://orcid.org/0000-0002-8305-7592ЛохматовМ. М.LokhmatovM. M.noemail@neicon.ruhttps://orcid.org/0000-0001-5730-3684КоролевГ. А.KorolevG. A.korolevg.a@yandex.ruhttps://orcid.org/0009-0005-4451-856XЛузгановаВ. С.LuzganovaV. S.noemail@neicon.ruhttps://orcid.org/0000-0003-4299-3269ТупыленкоА. В.TupylenkoA. V.noemail@neicon.ruhttps://orcid.org/0000-0002-8805-8164ОлдаковскийВ. И.OldakovskiyV. I.noemail@neicon.ruhttps://orcid.org/0000-0002-7379-7298БудкинаТ. Н.BudkinaT. N.noemail@neicon.ruФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России; ФГАОУ ВО «Первый Московский государственный медицинский университет им. И. М. Сеченова» Минздрава России (Сеченовский Университет)National Medical Research Center for Children’s Health; I. M. Sechenov First Moscow State Medical University (Sechenov University)ФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииNational Medical Research Center for Children’s HealthФГАОУ ВО «Первый Московский государственный медицинский университет им. И. М. Сеченова» Минздрава России (Сеченовский Университет)I. M. Sechenov First Moscow State Medical University (Sechenov University)2024060320256642330Copyright © Лохматов М.М., Королев Г.А., Лузганова В.С., Тупыленко А.В., Олдаковский В.И., Будкина Т.Н., 20252025Лохматов М.М., Королев Г.А., Лузганова В.С., Тупыленко А.В., Олдаковский В.И., Будкина Т.Н.Lokhmatov M.M., Korolev G.A., Luzganova V.S., Tupylenko A.V., Oldakovskiy V.I., Budkina T.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://clinendo.elpub.ru/jour/article/view/187

Гамартомные полипы - доброкачественные эпителиальные образования, которые преимущественно образуются в желудочно-кишечном тракте. В настоящее время описано и изучено множество синдромов, которые объединяет образование гамартом. Сам термин «гамартома» описывает новообразования, формирующиеся за счет нарушения количественного соотношения тканевых элементов и их гиперплазии. Клиническая картина большинства полипов желудочно-кишечного тракта очень похожа, в то время как каждый синдром гамартоматозного полипоза имеет свои клинические особенности и уникальные проявления. Данная группа заболеваний многообразна, но наиболее важным аспектом этой проблемы является то, что большинство описанных в данном обзоре литературы заболеваний ассоциированы с онкологическими заболеваниями. В подавляющем большинстве случаев первыми с гамартомными полипами в ЖКТ встречаются врачи эндоскописты. Современные технологии позволяют выполнить малоинвазивное удаление не только в верхних отделах и толстой кишке, но в тонкой. Однако эндоскопическая картина разных синдромов практически не отличается. Таким образом своевременное выявление, дифференциальная диагностика, правильная постановка диагноза и выбор оптимальной тактики динамического наблюдения и адекватного лечения - важная задача, которая требует мультидисциплинарного подхода. В данной работе представлена характеристика редких синдромов гамартоматозного полипоза, а именно синдрома ювенильного полипоза, Пейтца-Егерса, наследственного смешанного полипоза, Каудена, Баннайана-Райли-Рувалькабы, а также приобретенного синдрома ювенильного полипоза - Кронхите-Канада. Представлена краткая историческая справка, описаны клинические проявления, этиология, патогенез, микроскопические отличия и особенности.

Hamartoma polyps are benign epithelial formations that primarily form in the gastrointestinal tract. Currently, many syndromes that are united by the formation of hamartomas have been described and studied. The term «hamartoma» itself describes neoplasms formed due to a violation of the quantitative ratio of tissue elements and their hyperplasia. The clinical presentation of most gastrointestinal polyps is very similar, while each hamartomatous polyposis syndrome has its own clinical features and unique presentations. This group of diseases is diverse; the most important aspect of this problem is that most of the diseases described in this literature review are associated with cancer. In the vast majority of cases, endoscopists are the first to see hamartomatous polyps in the gastrointestinal tract. Modern technologies make it possible to perform minimally invasive removal not only in the upper sections and large intestine, but also in the small intestine. However, the endoscopic picture of different syndromes is practically the same.Thus, timely detection, differential diagnosis, correct diagnosis and selection of optimal tactics for dynamic observation and adequate treatment is an important task that requires a multidisciplinary approach. This paper presents the characteristics of rare syndromes of hamartomatous polyposis, namely juvenile polyposis syndrome, Peutz-Jeghers, hereditary mixed polyposis, Cowden, Bannayan-Riley-Ruvalcaba, as well as acquired juvenile polyposis syndrome - Cronchite-Canada. A brief historical background is presented, clinical manifestations, etiology, pathogenesis, microscopic differences and features are described.

синдром гамартоматозного полипозаполипозгамартомные полипыhamartomatous polyposis syndromepolyposishamartomatous polypsReferencesCalva D., Howe J. R. Hamartomatous polyposis syndromes. Surg Clin North Am. 2008 Aug;88(4):779-817, vii. doi: 10.1016/j.suc.2008.05.002.Calva D., Howe J. R. Hamartomatous polyposis syndromes. Surg Clin North Am. 2008 Aug;88(4):779-817, vii. doi: 10.1016/j.suc.2008.05.002.Diamond M. Adenoma of the rectum in children: Report of a case in a thirty month old girl. American Journal of Diseases in Children. 1939;57:360.Diamond M. Adenoma of the rectum in children: Report of a case in a thirty month old girl. American Journal of Diseases in Children. 1939;57:360.Ravitch M. M. Polypoid adenomatosis of the entire gastrointestinal tract. Annals of Surgery. 1948;128:283Ravitch M. M. Polypoid adenomatosis of the entire gastrointestinal tract. Annals of Surgery. 1948;128:283Horrilleno E. G., Eckert C., Ackerman L. V. Polyps of the rectum and colon in children. Cancer. 1957;10:121.Horrilleno E. G., Eckert C., Ackerman L. V. Polyps of the rectum and colon in children. Cancer. 1957;10:121.McColl I., Bussey H. J.R., Veale A. M.O. et al. Juvenile polyposis coli. Proceedings of the Royal Society of Medicine. 1964;57:896.McColl I., Bussey H. J.R., Veale A. M.O. et al. Juvenile polyposis coli. Proceedings of the Royal Society of Medicine. 1964;57:896.Rosty C. The Role of the Surgical Pathologist in the Diagnosis of Gastrointestinal Polyposis Syndromes. Adv Anat Pathol. 2018 Jan;25(1):1-13. doi: 10.1097/PAP.0000000000000173.Rosty C. The Role of the Surgical Pathologist in the Diagnosis of Gastrointestinal Polyposis Syndromes. Adv Anat Pathol. 2018 Jan;25(1):1-13. doi: 10.1097/PAP.0000000000000173.Desai D. C., Neale K. F., Talbot I. C. et al. Juvenile polyposis. British Journal of Surgery. 1995;82:14.Desai D. C., Neale K. F., Talbot I. C. et al. Juvenile polyposis. British Journal of Surgery. 1995;82:14.Howe J. R., Bair J. L., Sayed M. G. et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nature Genetics. 2001;28:184.Howe J. R., Bair J. L., Sayed M. G. et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nature Genetics. 2001;28:184.Aretz S., Stienen D., Uhlhaas S. et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44:702.Aretz S., Stienen D., Uhlhaas S. et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44:702.Dal Buono A., Gaiani F., Poliani L., Laghi L. Juvenile polyposis syndrome: An overview. Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101799. doi: 10.1016/j.bpg.2022.101799.Dal Buono A., Gaiani F., Poliani L., Laghi L. Juvenile polyposis syndrome: An overview. Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101799. doi: 10.1016/j.bpg.2022.101799.Blatter R., Tschupp B., Aretz S. et al. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. Genet Med. 2020 Sep;22(9):1524-1532. doi: 10.1038/s41436-020-0826-1.Blatter R., Tschupp B., Aretz S. et al. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. Genet Med. 2020 Sep;22(9):1524-1532. doi: 10.1038/s41436-020-0826-1.Hutchinson J. Pigmentation of Lips and Mouth. Arch Surg. 1896;7:290.Hutchinson J. Pigmentation of Lips and Mouth. Arch Surg. 1896;7:290.Peutz J. L. A very remarkable case of familial polyposis of mucous membrane of intestinal tract and accompanied by peculiar pigmentations of skin and mucous membrane. Nederlands Tijdschrift voor Geneeskunde. 1921;10:134.Peutz J. L. A very remarkable case of familial polyposis of mucous membrane of intestinal tract and accompanied by peculiar pigmentations of skin and mucous membrane. Nederlands Tijdschrift voor Geneeskunde. 1921;10:134.Jeghers H., McKusick V.A., Katz K. H. Generalized intestinal polyposis and melanin spots of oral mucosa, lips, and digits. The New England Journal of Medicine. 1949;241:993.Jeghers H., McKusick V.A., Katz K. H. Generalized intestinal polyposis and melanin spots of oral mucosa, lips, and digits. The New England Journal of Medicine. 1949;241:993.Bruwer A., Bargen J.A, Kierland R. R. Surface pigmentation and generalized intestinal polyposis; (Peutz-Jeghers syndrome). Proc Staff Meet Mayo Clin. 1954 Mar 24;29(6):168-71. PMID: 13145642.Bruwer A., Bargen J.A, Kierland R. R. Surface pigmentation and generalized intestinal polyposis; (Peutz-Jeghers syndrome). Proc Staff Meet Mayo Clin. 1954 Mar 24;29(6):168-71. PMID: 13145642.Tacheci I., Kopacova M., Bures J. Peutz-Jeghers syndrome. Curr Opin Gastroenterol. 2021 May 1;37(3):245-254. doi: 10.1097/MOG.0000000000000718.Tacheci I., Kopacova M., Bures J. Peutz-Jeghers syndrome. Curr Opin Gastroenterol. 2021 May 1;37(3):245-254. doi: 10.1097/MOG.0000000000000718.Shaco-Levy Ruthy, Jasperson Kory W., Martin Katie, Samadder N. Jewel, Burt Randall W., Ying Jian, Bronner Mary P., Morphologic Characterization of Hamartomatous Gastrointestinal Polyps in Cowden Syndrome, Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome. Human Pathology. 2016 Mar;49:39-48. doi: 10.1016/j.humpath.2015.10.002.Shaco-Levy Ruthy, Jasperson Kory W., Martin Katie, Samadder N. Jewel, Burt Randall W., Ying Jian, Bronner Mary P., Morphologic Characterization of Hamartomatous Gastrointestinal Polyps in Cowden Syndrome, Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome. Human Pathology. 2016 Mar;49:39-48. doi: 10.1016/j.humpath.2015.10.002.Gilad O., Rosner G., Fliss-Isakov N., Aharon-Kaspi S., Strul H., Gluck N., Kariv R. Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes. Clin Transl Gastroenterol. 2019 May 22;10(5):1-9. doi: 10.14309/ctg.0000000000000035.Gilad O., Rosner G., Fliss-Isakov N., Aharon-Kaspi S., Strul H., Gluck N., Kariv R. Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes. Clin Transl Gastroenterol. 2019 May 22;10(5):1-9. doi: 10.14309/ctg.0000000000000035.de Jong M. A., van Leerdam M. E., Offerhaus G. J.A.J., Keller J. J. 100 jaar Peutz-Jeghers-syndroom [100 years Peutz-Jeghers syndrome]. Ned Tijdschr Geneeskd. 2022 May 4;166: D6507.de Jong M. A., van Leerdam M. E., Offerhaus G. J.A.J., Keller J. J. 100 jaar Peutz-Jeghers-syndroom [100 years Peutz-Jeghers syndrome]. Ned Tijdschr Geneeskd. 2022 May 4;166: D6507.García-García V.H., López-Colombo A., Gutiérrez-Quiroz C.T., Téllez-Cervantes J. A. Peutz-Jeghers syndrome: Evidence-based decision-making, regarding a case. Rev Gastroenterol Mex (Engl Ed). 2022 Apr-Jun;87(2):263-265. doi: 10.1016/j.rgmxen.2022.03.002.García-García V.H., López-Colombo A., Gutiérrez-Quiroz C.T., Téllez-Cervantes J. A. Peutz-Jeghers syndrome: Evidence-based decision-making, regarding a case. Rev Gastroenterol Mex (Engl Ed). 2022 Apr-Jun;87(2):263-265. doi: 10.1016/j.rgmxen.2022.03.002.Yamamoto H., Sakamoto H., Kumagai H. et al. Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults. Digestion. 2023;104(5):335-347. doi: 10.1159/000529799.Yamamoto H., Sakamoto H., Kumagai H. et al. Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults. Digestion. 2023;104(5):335-347. doi: 10.1159/000529799.Ohmiya N., Nakamura M., Takenaka H. et al. Management of small-bowel polyps in Peutz-Jeghers syndrome by using enteroclysis, double-balloon enteroscopy, and videocapsule endoscopy. Gastrointest Endosc. 2010 Dec;72(6):1209-16. doi: 10.1016/j.gie.2010.08.018.Ohmiya N., Nakamura M., Takenaka H. et al. Management of small-bowel polyps in Peutz-Jeghers syndrome by using enteroclysis, double-balloon enteroscopy, and videocapsule endoscopy. Gastrointest Endosc. 2010 Dec;72(6):1209-16. doi: 10.1016/j.gie.2010.08.018.Kaschula R. O. Mixed juvenile, adenomatous and intermediate polyposis coli: report of a case. Dis Colon Rectum. 1971;14:368.Kaschula R. O. Mixed juvenile, adenomatous and intermediate polyposis coli: report of a case. Dis Colon Rectum. 1971;14:368.Whitelaw S. C., Murday V. A., Tomlinson I. P.M. et al. Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology. 1997;112:327.Whitelaw S. C., Murday V. A., Tomlinson I. P.M. et al. Clinical and molecular features of the hereditary mixed polyposis syndrome. Gastroenterology. 1997;112:327.Rocha Ramírez J. L., Villanueva Sáenz E., Hernández-Magro P.M. et al. Hereditary mixed polyposis syndrome. First report in Mexico. Rev Gastroenterol Mex. 2005 Oct-Dec;70(4):430-3.Rocha Ramírez J. L., Villanueva Sáenz E., Hernández-Magro P.M. et al. Hereditary mixed polyposis syndrome. First report in Mexico. Rev Gastroenterol Mex. 2005 Oct-Dec;70(4):430-3.Cao X., Eu K. W., Kumarasinghe M. P., Li H. H., Loi C., Cheah P. Y. Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. J Med Genet. 2006 Mar;43(3): e13. doi: 10.1136/jmg.2005.034827.Cao X., Eu K. W., Kumarasinghe M. P., Li H. H., Loi C., Cheah P. Y. Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. J Med Genet. 2006 Mar;43(3): e13. doi: 10.1136/jmg.2005.034827.Ibirogba S. B., Algar U., Goldberg P. A., Duffield M., Vorster A., Ramesar R. Clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family. S Afr J Surg. 2008 Aug;46(3):90-2.Ibirogba S. B., Algar U., Goldberg P. A., Duffield M., Vorster A., Ramesar R. Clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family. S Afr J Surg. 2008 Aug;46(3):90-2.Jelsig A. M., Qvist N., Brusgaard K., Nielsen C. B., Hansen T. P., Ousager L. B. Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis. 2014 Jul 15;9:101. doi: 10.1186/1750-1172-9-101.Jelsig A. M., Qvist N., Brusgaard K., Nielsen C. B., Hansen T. P., Ousager L. B. Hamartomatous polyposis syndromes: a review. Orphanet J Rare Dis. 2014 Jul 15;9:101. doi: 10.1186/1750-1172-9-101.Rozen P., Samuel Z., Brazowski E. A prospective study of the clinical, genetic, screening, and pathologic features of a family with hereditary mixed polyposis syndrome. Am J Gastroenterol. 2003 Oct;98(10):2317-20. doi: 10.1111/j.1572-0241.2003.07714.x.Rozen P., Samuel Z., Brazowski E. A prospective study of the clinical, genetic, screening, and pathologic features of a family with hereditary mixed polyposis syndrome. Am J Gastroenterol. 2003 Oct;98(10):2317-20. doi: 10.1111/j.1572-0241.2003.07714.x.Riley H. D., Smith W. R. Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics. 1960;26:293.Riley H. D., Smith W. R. Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics. 1960;26:293.Lloyd K. M., 2nd, Dennis M. Cowden’s disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. 1963;58:136.Lloyd K. M., 2nd, Dennis M. Cowden’s disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. 1963;58:136.Scheper M. A., Nikitakis N. G., Sarlani E., Sauk J. J., Meiller T. F. Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006 May;101(5):625-31. doi: 10.1016/j.tripleo.2005.06.026.Scheper M. A., Nikitakis N. G., Sarlani E., Sauk J. J., Meiller T. F. Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006 May;101(5):625-31. doi: 10.1016/j.tripleo.2005.06.026.Yehia L., Keel E., Eng C. The Clinical Spectrum of PTEN Mutations. Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823.Yehia L., Keel E., Eng C. The Clinical Spectrum of PTEN Mutations. Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823.Innella G., Miccoli S., Colussi D. et al. Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review. Pathol Res Pract. 2021 Feb;218:153339. doi: 10.1016/j.prp.2020.153339.Innella G., Miccoli S., Colussi D. et al. Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review. Pathol Res Pract. 2021 Feb;218:153339. doi: 10.1016/j.prp.2020.153339.Shaco-Levy R., Jasperson K. W., Martin K., Samadder N. J., Burt R. W., Ying J., Bronner M. P. Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Hum Pathol. 2016 Mar;49:39-48. doi: 10.1016/j.humpath.2015.10.002.Shaco-Levy R., Jasperson K. W., Martin K., Samadder N. J., Burt R. W., Ying J., Bronner M. P. Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Hum Pathol. 2016 Mar;49:39-48. doi: 10.1016/j.humpath.2015.10.002.Caliskan A., Kohlmann W. K., Affolter K. E., Downs-Kelly E., Kanth P., Bronner M. P.Intramucosal lipomas of the colon implicate Cowden syndrome. Mod Pathol. 2018 Apr;31(4):643-651. doi: 10.1038/modpathol.2017.161.Caliskan A., Kohlmann W. K., Affolter K. E., Downs-Kelly E., Kanth P., Bronner M. P.Intramucosal lipomas of the colon implicate Cowden syndrome. Mod Pathol. 2018 Apr;31(4):643-651. doi: 10.1038/modpathol.2017.161.Hanssen A. M., Fryns J. P. Cowden syndrome. J Med Genet. 1995 Feb;32(2):117-9. doi: 10.1136/jmg.32.2.117.Hanssen A. M., Fryns J. P. Cowden syndrome. J Med Genet. 1995 Feb;32(2):117-9. doi: 10.1136/jmg.32.2.117.Daly M. B., Pal T., Maxwell K. N. et al. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. J Natl Compr Canc Netw. 2023 Oct;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051.Daly M. B., Pal T., Maxwell K. N. et al. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. J Natl Compr Canc Netw. 2023 Oct;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051.Bannayan G. A. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch Pathol. 1971;92:1.Bannayan G. A. Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome. Arch Pathol. 1971;92:1.Marsh D. J., Kum J. B., Lunetta K. L. et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999;8:1461.Marsh D. J., Kum J. B., Lunetta K. L. et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999;8:1461.Salinas I., Perez Del Nogal G., Herrera A., Rojas P., Shah K. Diffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes. Cureus. 2021 Oct 6;13(10): e18543. doi: 10.7759/cureus.18543.Salinas I., Perez Del Nogal G., Herrera A., Rojas P., Shah K. Diffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes. Cureus. 2021 Oct 6;13(10): e18543. doi: 10.7759/cureus.18543.Pilarski R., Burt R., Kohlman W., Pho L, Shannon K. M., Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013 Nov 6;105(21):1607-16. doi: 10.1093/jnci/djt277.Pilarski R., Burt R., Kohlman W., Pho L, Shannon K. M., Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013 Nov 6;105(21):1607-16. doi: 10.1093/jnci/djt277.Zhou X., Hampel H., Thiele H. et al. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet. 2001;358:210-11.Zhou X., Hampel H., Thiele H. et al. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet. 2001;358:210-11.Takayama T., Muguruma N., Igarashi M. et al. Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication. J Anus Rectum Colon. 2023 Oct 25;7(4):284-300. doi: 10.23922/jarc.2023-028.Takayama T., Muguruma N., Igarashi M. et al. Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication. J Anus Rectum Colon. 2023 Oct 25;7(4):284-300. doi: 10.23922/jarc.2023-028.Cronkhite L. W., Jr, Canada W. J. Generalized gastrointestinal polyposis; an unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. N Engl J Med. 1955;252:1011.Cronkhite L. W., Jr, Canada W. J. Generalized gastrointestinal polyposis; an unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. N Engl J Med. 1955;252:1011.Adolph V. R., Bernabe K. Polyps in children. Clin Colon Rectal Surg. 2008 Nov;21(4):280-5. doi: 10.1055/s-0028-1089943.Adolph V. R., Bernabe K. Polyps in children. Clin Colon Rectal Surg. 2008 Nov;21(4):280-5. doi: 10.1055/s-0028-1089943.Yashiro M., Kobayashi H., Kubo N. et al. Cronkhite-Canada syndrome containing colon cancer and serrated adenoma lesions. Digestion. 2004; 69: 57-62.Yashiro M., Kobayashi H., Kubo N. et al. Cronkhite-Canada syndrome containing colon cancer and serrated adenoma lesions. Digestion. 2004; 69: 57-62.Hokari R., Higashiyama M., Hozumi H. [Cronkhite-Canada syndrome]. Nihon Shokakibyo Gakkai Zasshi. 2022;119(3):191-200. Japanese. doi: 10.11405/nisshoshi.119.191.Hokari R., Higashiyama M., Hozumi H. [Cronkhite-Canada syndrome]. Nihon Shokakibyo Gakkai Zasshi. 2022;119(3):191-200. Japanese. doi: 10.11405/nisshoshi.119.191.Wang W., Shao Y., Zhao D. H., Xue F., Ma X. B., Li Q., Liu C. X. Endoscopic and Pathological Characteristics of Cronkhite- Canada Syndrome: A Retrospective Analysis of 76 Cases. Turk J Gastroenterol. 2022 Jan;33(1):19-29. doi: 10.5152/tjg.2021.20667.Wang W., Shao Y., Zhao D. H., Xue F., Ma X. B., Li Q., Liu C. X. Endoscopic and Pathological Characteristics of Cronkhite- Canada Syndrome: A Retrospective Analysis of 76 Cases. Turk J Gastroenterol. 2022 Jan;33(1):19-29. doi: 10.5152/tjg.2021.20667.Nagy A., Tóth L., Theisz J., Bajkó N., Zolnai Zs., Varga M., Igaz I. [Cronkhite-Canada syndrome]. Orv Hetil. 2021; 162(11): 432-438.Nagy A., Tóth L., Theisz J., Bajkó N., Zolnai Zs., Varga M., Igaz I. [Cronkhite-Canada syndrome]. Orv Hetil. 2021; 162(11): 432-438.

The authors declare that there are no conflicts of interest present.