Fardal Øystein, Nevland Kristian, Johannessen Anne Christine, Vetti Hildegunn Høberg
Private practice, Egersund, Norway.
Institute of Education for Medical and Dental Sciences, University of Aberdeen, Aberdeen, UK.
Clin Adv Periodontics. 2023 Mar;13(1):21-26. doi: 10.1002/cap.10196. Epub 2022 Apr 18.
Patients with the PTEN hamartoma tumor syndrome (PHTS) have an 81%-90% cumulative lifetime risk of developing cancer. Around 90% of these patients have recognizable oral features. Receiving a diagnosis may save these patients' lives. This is the first presentation of a family with the PHTS diagnosis with focus on the oral and periodontal findings and treatments.
All three children (one son and two daughters) inherited the same heterozygous variant in the PTEN 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.
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. Why are these cases new information? Oral features are found in 90% of the cases with the PHTS diagnosis. The periodontal findings showed a persistent recurrence of gingival overgrowth with a strong probability of serious periodontal diseases. What are the keys to successful management of these cases? 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. Close monitoring during maintenance therapy with re-treatment as needed to prevent further periodontal complications. Continued monitoring and treatment throughout the patient's lifetime for development of recurrent or new, benign or malignant lesions at relevant sites. What are the primary limitations to success in these cases? A failure to identify the PHTS syndrome with the accompanying oral and periodontal complications. Complications may lead to a delay in appropriate treatment. Inability to control the persistent gingival overgrowth and a deteriorating periodontal condition. A failure to discover benign and malignant lesions in the orofacial region.
患有PTEN错构瘤肿瘤综合征（PHTS）的患者终生患癌累积风险为81%-90%。这些患者中约90%有可识别的口腔特征。获得诊断可能挽救这些患者的生命。这是首次呈现一个被诊断为PHTS的家族，重点关注口腔和牙周检查结果及治疗情况。
三个孩子（一个儿子和两个女儿）从父亲那里遗传了PTEN基因中相同的杂合变异。除巨头症外，所有患者均观察到牙龈增生。其他检查结果包括沟纹舌、高拱腭、丘疹和毛发上皮瘤。父亲曾经历严重的牙齿脱落。进行了手术治疗牙龈增生和牙周袋；然而，治疗的特点是增生多次复发。
口腔变化、巨头症、肿瘤和/或良性或恶性病变家族史是口腔临床医生应注意的重要特征，以便可能诊断为PHTS。疑似患有PHTS的患者应转诊给医生，特别是遗传学家，进行进一步的诊断检查。对这些患者来说，牙周问题似乎难以控制。他们可能需要积极且频繁的维护治疗，以控制持续的炎症和牙龈增生。此外，他们需要对面部区域的良性或恶性变化进行全面监测。为什么这些病例是新信息？在90%被诊断为PHTS的病例中发现了口腔特征。牙周检查结果显示牙龈增生持续复发，很有可能发展为严重的牙周疾病。成功管理这些病例的关键是什么？怀疑诊断为PHTS并转诊给医生，特别是遗传学家，进行全面检查可能有助于挽救这些患者的生命。在维护治疗期间密切监测，并根据需要重新治疗，以预防进一步的牙周并发症。在患者的一生中持续监测和治疗相关部位复发性或新出现的良性或恶性病变。这些病例成功的主要限制是什么？未能识别伴有口腔和牙周并发症的PHTS综合征。并发症可能导致适当治疗的延迟。无法控制持续的牙龈增生和不断恶化的牙周状况。未能发现面部区域的良性和恶性病变。
