{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T07:09:51Z","timestamp":1792393791620,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,4,18]],"date-time":"2022-04-18T00:00:00Z","timestamp":1650240000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["aap.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clin Adv Periodontics"],"published-print":{"date-parts":[[2023,3]]},"abstract":"Abstract<\/jats:title>\n \n Introduction<\/jats:title>\n \n Patients with the\n PTEN<\/jats:italic>\n hamartoma tumor syndrome (PHTS) have an 81%\u201390% cumulative lifetime risk of developing cancer. Around 90% of these patients have recognizable oral features. Receiving a diagnosis may save these patients\u2019 lives. This is the first presentation of a family with the PHTS diagnosis with focus on the oral and periodontal findings and treatments.\n <\/jats:p>\n <\/jats:sec>\n \n Case Presentation<\/jats:title>\n \n All three children (one son and two daughters) inherited the same heterozygous variant in the\n PTEN<\/jats:italic>\n gene from their father. Gingival overgrowth was observed in all patients in addition to macrocephaly. Other findings included fissured tongue, high arched palate, papules, and trichilemmomas. The father had experienced severe tooth loss. Surgery was performed to treat the gingival overgrowth and periodontal pockets; however, the treatment was characterized by multiple recurrences of the overgrowth.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n Oral changes, macrocephaly, tumors, and\/or a family history of benign or malignant lesions are important features that oral clinicians should be aware of for a possible PHTS diagnosis. Patients suspected of having PHTS should be referred to a medical practitioner, specifically a geneticist, for further diagnostic investigations. The periodontal problems seemed to be difficult to control for these patients. They will likely need an active and frequent maintenance therapy to control the persistent inflammation and gingival overgrowth. In addition, they need a thorough monitoring for benign or malignant changes in the orofacial regions.<\/jats:p>\n <\/jats:sec>\n \n \n \n Why are these cases new information?<\/jats:bold>\n \n \n Oral features are found in 90% of the cases with the PHTS diagnosis.<\/jats:p>\n <\/jats:list-item>\n \n The periodontal findings showed a persistent recurrence of gingival overgrowth with a strong probability of serious periodontal diseases.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:p>\n \n What are the keys to successful management of these cases?<\/jats:bold>\n \n \n A suspicion of a PHTS diagnosis with a referral to a medical practitioner, specifically a geneticist, for complete workup may help save these patients' lives.<\/jats:p>\n <\/jats:list-item>\n \n Close monitoring during maintenance therapy with re\u2010treatment as needed to prevent further periodontal complications.<\/jats:p>\n <\/jats:list-item>\n \n Continued monitoring and treatment throughout the patient's lifetime for development of recurrent or new, benign or malignant lesions at relevant sites.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:p>\n \n What are the primary limitations to success in these cases?<\/jats:bold>\n \n \n A failure to identify the PHTS syndrome with the accompanying oral and periodontal complications. Complications may lead to a delay in appropriate treatment.<\/jats:p>\n <\/jats:list-item>\n \n Inability to control the persistent gingival overgrowth and a deteriorating periodontal condition.<\/jats:p>\n <\/jats:list-item>\n \n A failure to discover benign and malignant lesions in the orofacial region.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/cap.10196","type":"journal-article","created":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T06:15:09Z","timestamp":1648620909000},"page":"21-26","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The\n PTEN<\/i>\n hamartoma tumor syndrome: how oral clinicians may save lives"],"prefix":"10.1002","volume":"13","author":[{"given":"\u00d8ystein","family":"Fardal","sequence":"first","affiliation":[{"name":"Private practice Egersund Norway"},{"name":"Institute of Education for Medical and Dental Sciences University of Aberdeen Aberdeen UK"},{"name":"Institute of Community Dentistry University of Oslo Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristian","family":"Nevland","sequence":"additional","affiliation":[{"name":"Private practice Egersund Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Christine","family":"Johannessen","sequence":"additional","affiliation":[{"name":"Gade Laboratory for Pathology, Department of Clinical Medicine University of Bergen Bergen Norway"},{"name":"Department of Pathology Haukeland University Hospital Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hildegunn H\u00f8berg","family":"Vetti","sequence":"additional","affiliation":[{"name":"Western Norway Familial Cancer Center, Department of Medical Genetics Haukeland University Hospital Bergen Norway"},{"name":"Affiliated partner of the European Reference Network on Genetic Tumor Risk Syndromes (ERN GENTURIS)\u2014Project ID No. 739547"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13875"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0651-7"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000508872"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101339"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-114"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djt277"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers11060844"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tranon.2018.11.003"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2018.00338"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200289"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104364"},{"key":"e_1_2_9_13_1","first-page":"413","article-title":"Cowden syndrome: oral presentations of a paraneoplastic syndrome. Case report and a review of the literature","volume":"48","author":"Tariq S","year":"2017","journal-title":"Quintessence Int"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcpe.12426"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/jre.12108"}],"container-title":["Clinical Advances in Periodontics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cap.10196","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cap.10196","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/aap.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cap.10196","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T20:19:08Z","timestamp":1760041148000},"score":1,"resource":{"primary":{"URL":"https:\/\/aap.onlinelibrary.wiley.com\/doi\/10.1002\/cap.10196"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,18]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/cap.10196"],"URL":"https:\/\/doi.org\/10.1002\/cap.10196","archive":["Portico"],"relation":{},"ISSN":["2573-8046","2163-0097"],"issn-type":[{"value":"2573-8046","type":"print"},{"value":"2163-0097","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,18]]},"assertion":[{"value":"2021-12-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}