Čes. stomatol. Prakt. zub. lék.. X:X
Orofaciální projevy syndromu mnohočetných hamartomů u dítěte (kazuistika)
Received: April 8, 2026; Revised: June 2, 2026; Accepted: June 7, 2026; Prepublished online: August 26, 2026
References
- Lloyd KM 2nd, Dennis M. Cowden´s disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. 1963; 58: 136-142. doi: 10.7326/0003-4819-58-1-136
Go to original source... - Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 1997; 16(1): 64-67. doi: 10.1038/ng0597-64
Go to original source...
Go to PubMed... - Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet. 2008; 16:1289-1300. doi: 10.1038/ejhg.2008.162.
Go to original source... - Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000; 37(11): 828-830. doi: 10.1136/jmg.37.11.828
Go to original source...
Go to PubMed... - Pirlog LM, Pǎtrǎṣcanu AA, Militaru MS, Cǎtanǎ A. Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review. Medicina. 2024; 60(5): 767. doi:10.3390/medicina60050767
Go to original source...
Go to PubMed... - Kacerovská D, Michal M, Vaněček T, Kazakov DV. Kožní syndromy spojené s adnexálními tumory. Čes Dermatovenerol. 2012; 2(1): 32-37.
- Puchmajerová A, Vacovčák P, Křepelová A, Plevová P. Cowdenův syndrom. Klin Onkol. 2009; 22(Suppl): S56-57.
- Mignogma MD, Muzio LL, Ruocco V, Bucci E. Early diagnosis of multiple hamartoma and neoplasia syndrome (Cowden disease). The role of the dentist. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1995; 79(3): 295-299. doi: 10.1016/S1079-2104(05)80222-7
Go to original source...
Go to PubMed... - Flores IL, Romo SA, Tejeda Nava FJ, Roger dos Santos Silva A, Vargas PA, Paes de Almeida O, Lopes MH. Oral presentation of 10 patients with Cowden syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol. 2014; 117(4): e301-10. doi: 10.1016/j.oooo.2014.01.015
Go to original source...
Go to PubMed... - Jelsig AM, Qvist N, Brusgaard K, Nielsen CB, Hansen TP, Ousager LB. Hamartomatous polyposis syndromes: A review. Orphanet J Rare Dis. 2014;15(9): 101. doi: 10.1186/1750-1172-9-101
Go to original source...
Go to PubMed... - Macken WL, Tischkowitz M, Lachlan KL. PTEN Hamartoma tumor syndrome in childhood: a review of the clinical literature. Am J Med Genet Part C. 2019; 181(4): 591-610. doi: 10.1002/ajmg.c.31743
Go to original source...
Go to PubMed... - Bleeker FE, Hopman SMJ, Merks JHM, Aalfs CM, Hennekan RCM. Brain Tumors and Syndromes in Children. Neuropediatrics. 2014; 45(03): 137-161. doi: 10.1055/s-0034-1368116
Go to original source...
Go to PubMed... - Krutílková V. Genetické syndromy predisponující k dětským nádorům centrálního nervového systému. Klin Onkol. 2016; 29(Suppl1): S71-S577. doi: 10.14735/amko2016571
Go to original source...
Go to PubMed... - Albrecht S, Miedzybrodzki B, Palma L, Nguyen VH, Dutley RWR, Pietsch T et al. Medulloblastoma and Cowden syndrome: Further evidence of an association. FNP. 2022; 11(3): 1. doi: 10.17879/freeneuropathology-2022-3684
Go to original source... - Plevová P. Nové poznatky o geneticky podmíněných nádorech tlustého střeva a polypózách gastrointestinálního traktu. Klin Onkol 2019; 32(Suppl 2): 2S97-2S108. doi: 10.14735/amko2019597
Go to original source... - Marshall M, Otero D, Niklander S, Martinez-Flores R. Cowden´s syndrome diagnosed through oral lesions: A case report. J Clin Exp Dent. 2021; 13(11): el162-el1166. doi: 10.4317/jced 58890
Go to original source...
Go to PubMed... - Reddy KV, Anusha A, Maloth KN, Sunitha K, Thakur M. Mucocutaneous manifestations of Cowden´s syndrome. Indian J Dermatol. 2016; 7(6): 512-515. doi: 10.4103/2229-5178.193911
Go to original source...
Go to PubMed... - Swart JGN, Lekkas C, Allerd RHB. Oral manifestations in Cowden´s syndrome: Report of four cases. Oral Surg Oral Med Oral Pathol. 1985; 59(3): 264-268. doi: 10.1016/0030-4220(85)90164-1
Go to original source... - Schei-Andersen AJ, van Oirschot B, Drissen MMCM, Schieving J, Schuurs-Hoeijmakers JHM, Vos JR, et al. Exploring the Prevalence of Oral features for Early Detection of PTEN Hamartoma Tumour Syndrome. Int Dent J. 2024; 74(6): 1424-1431. doi: 10.1016/j.identj.2024.04.014
Go to original source...
Go to PubMed... - Sousa-Neto SS, de Arruda JAA, Martines AFL, Abren LG, Mesquita RA, Mendonça EF. Orofacial Manifestations Assisting the Diagnosis of Cowden Syndrome in a Middle-Aged Patient: Case Report and Literature Overview. Head Neck Pathol. 2022; 16(1): 304-313. doi: 10.1007/s12105-021-01345-1
Go to original source...
Go to PubMed... - Hammerschmidt M, Lourenꞔo SV, Simonsen Nico MM. A clinicopathological study of the oral lesions of Cowden disease. J Oral Pathol Med. 2017; 46(8): 637-643. doi: 10.1111/jop.12519
Go to original source...
Go to PubMed... - Martin-Valbuena J, Gestoso-Uzal N, Justel-Rodriquez M, Isidoro-Garcia M, Marcos-Vadillo E, Lorenzo-Hernández SM et al. PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients. Childs Nerv Syst. 2024; 40(6): 1689-1697. doi: 10.1007/s00381-024-06301-2
Go to original source... - Fardal Ø, Nevland K, Johannessen AC, Velli HH. The PTEN hamartoma tumor syndrome: how oral clinicians may save lives. Clin Adv Periodontics. 2023; 13(1) :21-26. doi: 10.1002/cap.10196
Go to original source...
Go to PubMed... - Segura-Saint-Gerons R, Ceballos-Salobreṅa A, Toro-Rojas M, Gándaza Rey JM. Oral manifestations of Cowden´s disease. Presentation of a clinical case. Med Oral Patol Oral Cir Buccal. 2006;11(5): E421-424.
- Frazier TW. Autism spectrum disorder associated with germline heterozygous PTEN mutations. Cold Spring Harbor Perspect Med. 2019; 9(10): a037002-037009.
Go to original source...
Go to PubMed... - Botma M, Russell DI, Kell RA. Cowden´s disease: a rare cause of oral papillomatosis. J Laryngol Otol. 2002; 116(3): 221-223. doi: 10.1258/0022215021910393
Go to original source...
Go to PubMed... - Nusbaum R, Vogel KJ, Ready K. Susceptibility to Breast Cancer: Hereditary Syndromes and Low Penetrance genes. Breast Dis. 2006; 27(1): 21-50. doi: 10.3233/BD-2007-27103
Go to original source...
Go to PubMed... - Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunel J, Lleuger-Pujot R, Hoberg-Vetti H. et al. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome. J Natl Cancer Inst. 2023; 115(1): 93-103. doi: 10.1093/jnci/djact188
Go to original source...
Go to PubMed... - Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria. J Natl Cancer Inst. 2013; 105(21): 1607-16016. doi: 10.1093jnci/djt277
Go to original source...
Go to PubMed... - Tan MH, Mester J, Oeterson C, Yang Y, Chen JL, Rybicki LA et al. A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing is Proposal on the Basis of a Prospective Study of 3042 Probands. Am J Hum Genet. 2011; 88(1): 42-56. doi: 10.1016/j.ajhg 2010.11.013
Go to original source...
Go to PubMed... - Šoukalová J, Vejmělková K, Cermanová T, Kašíková K, Mikulášová A, Jaryšková H et al. Identifikace rodiny s nosičstvím germinální delece genu SUFU na podkladě diagnózy desmoplastického meduloblastomu u batolete. Klin Onkol. 2016; 29(Suppl1): S83-88. doi:10.14735/amko2016S83
Go to original source...
Go to PubMed... - Sutera S, Giachino DF, Pelle A, Zuntini R, Pentenero M. Gingival Overgrowth Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants. Biomedicines. 2023; 11(1): 81. doi: 10.3390/biomedicines11010081
Go to original source... - Peretz B, Sarnat H, Kharouba J. Chemotherapy induced dental changes in a child with meduloblastoma: a case report. J Clin Pediatr Dent. 2014; 38(3): 251-2544. doi: 10.17796/jcpd.38.3.c707838527x3155q
Go to original source...
Go to PubMed... - Nowwarote N, Osathanoa T, Fournier BPJ, Theerapanon T, Yodsanga S, Kamolratanakul P et al. PTEN regulates proliferation and osteogenesis of dental pulp cells and adipogenesis of human adipose-derived stem cells. Oral Dis. 2023; 29(2): 735-746. doi: 10.1111/odi.14030
Go to original source... - Rogalidou M, Katziakis N, Stefanaki K, Dimakou K, Margoni D, Pelagiadis I. et al. Cowden Syndrome in childhood: Gastrointestinal Involvement in a Multisystem Genetic Disorder - A Case Report. Reports(MDPI). 2026; 9(1): 21. doi: 10.3390/reports9010021
Go to original source...
Go to PubMed...
This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0), which permits non-comercial use, distribution, and reproduction in any medium, provided the original publication is properly cited. No use, distribution or reproduction is permitted which does not comply with these terms.



