The PTEN hamartoma tumor syndrome: how oral clinicians may save lives.

INTRODUCTION: 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. CASE PRESENTATION: 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. CONCLUSIONS: 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.

Proposing a model for auditing data quality of long-term periodontal outcome studies.

OBJECTIVE: The assessment of the success of conventional periodontal therapy is based on retrospective studies from private practice and university clinics. Due to their marked heterogeneity, it is difficult to assess the data quality and rate these studies. The aim is to test a model for auditing and rating the data quality of periodontal outcome studies. METHODS: The method was adapted from the NIH Health Care Systems Collaboratory model, which uses three data quality dimensions: completeness (including all the relevant variables), consistency (ensuring that the same variables are compared) and accuracy (proportion of data in error with a gold standard). The model was applied to studies from a Norwegian specialist practice and data from the Norwegian Health database to test if the auditing process was workable using real world data. RESULTS: Forty-seven risk and prognostic factors were included for completeness. Seven variables were specified for consistency: tooth loss, smoking, systemic conditions, oral hygiene, individual tooth prognosis, maintenance profiles and timing of extractions. The factors tested showed a 95.7% completeness and an average accuracy deviation from the gold standard of -2.3% for each of the risk/prognostic factors and an overall study score of 93.3%. CONCLUSIONS: It was possible to develop a method for auditing and rating the quality of periodontal outcome studies. The model was tested using both real world data including risk and prognostic factors from individual outcome studies and national big data. The application of the model to these sets of data showed a high accuracy of the risk/prognostic factors and a close relationship with national big data.