Oral manifestations of phosphatase and tensin homolog hamartoma tumor syndrome

• Published in: The Journal of the American Dental Association (1939) Vol. 145; no. 9; pp. 950 - 954
• Main Authors: Celentano, Antonio, DDS, Adamo, Daniela, DDS, Leuci, Stefania, DDS, PhD, Mignogna, Michele Davide, MD, DMD
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.09.2014
• Subjects: Dentistry; genetics; neoplasms; Oral medicine; phosphatase and tensin homolog; PTEN hamartoma tumor syndrome; Oral medicine; CD; Phosphate and tensin homolog; PTEN; Red blood cell; phosphatase and tensin homolog; Lhermitte-Duclos disease; Bannayan-Riley-Ruvalcaba syndrome; LDD; BRRS; Cowden disease; PHTS; RBC; genetics; neoplasms; PTEN hamartoma tumor syndrome
• ISSN: 0002-8177; 1943-4723
• DOI: 10.14219/jada.2014.58

ABSTRACT Background Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) encompasses several rare disorders linked to mutations of the PTEN gene, including Cowden disease (CD) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). The authors present a case series involving patients with characteristic periodontal features. Case Descriptions The authors assessed three patients, two of whom already had been diagnosed with BRRS: a 60-year-old man and his 33-year-old daughter, both of whom had pathognomonic oral and cutaneous manifestations, and a 26-year-old man affected by multiple micropapillomatous and keratotic periodontal lesions, through which the diagnosis of CD was made. All three patients were referred to the oral medicine unit of the authors’ institution because of asymptomatic lesions of the oral mucosa, and two of them underwent incisional biopsy. Conclusions This series of cases emphasizes that oral health care workers always should perform a more careful visual inspection of the oral cavity without neglecting a macroscopic analysis of the gingival pattern. The knowledge of these diseases and their clinical features, associated with a multidisciplinary approach, allows clinicians to achieve remarkable diagnostic success. Practical Implications Gingival manifestations may represent one of the primary clinically detectable manifestations of these rare systemic diseases, in respect of which an early diagnosis could decrease the associated mortality and morbidity.