Oral Characteristics in Individuals With PTEN Hamartoma Tumour Syndrome

To describe the oral characteristics and evaluate the oral health status of patients with PTEN hamartoma tumour syndrome (PHTS).

This descriptive cross-sectional study enrolled participants diagnosed with PHTS at Haukeland University Hospital, Bergen, Norway. A comprehensive oral investigation was performed, including clinical dental and periodontal examination, assessments of gingival overgrowth and palate architecture, intraoral radiographs, orthopantomogram and intraoral optical scanning.

Twenty PHTS patients (13 females), with a median age of 45 years, participated in the study. A median of 25.5 teeth were present, and a DMFT score of 17 and DMFS score of 58 were recorded. Eleven patients (55%) were diagnosed with periodontitis, with seven classified as stage II, grade B, and four as stage IV, grade C. Nineteen patients (95%) had gingival overgrowth; the median clinical and photographic gingival overgrowth score was 2.0 and 40%, respectively, with 45% of the patients requiring treatment for the condition. Mucosal lesions were a universal finding. Palate height index was 52.0. Eight patients had 13 cancer diagnoses in total.

PHTS patients face significant oral health challenges, including compromised dental and periodontal health, prevalent gingival overgrowth, mucosal lesions and a high-arched palate. The findings highlight oral features that may facilitate early recognition of PHTS and reinforce the importance of integrating oral health care into patient management.