title: Oral manifestations of phosphatase and tensin homolog hamartoma tumor syndrome: a report of three cases.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Dr. Celentano is a doctoral student, Department of Neurosciences, Reproductive and Odontostomatological Sciences, Faculty of Medicine and Surgery, University of Naples Federico II, Via Pansini no. 5, Naples 80131, Italy, e-mail antony.celentano@gmail.com.Address correspondence to Dr. Celentano.
authors.forename: Antonio
authors.initials: A
authors.lastname: Celentano
authors.affiliation: Dr. Adamo is an oral surgical specialist, Department of Neurosciences, Reproductive and Odontostomatological Sciences, Faculty of Medicine and Surgery, University of Naples Federico II, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Adamo
authors.affiliation: Dr. Leuci is a clinical researcher, Oral Medicine Unit, and a postdoctoral fellow of oral medicine, Department of Neurosciences, Reproductive and Odontostomatological Sciences, Faculty of Medicine and Surgery, University of Naples Federico II, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Leuci
authors.affiliation: Dr. Mignogna is an associate professor of oral medicine and the head, Oral Medicine Unit, Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples Federico II, Italy.
authors.forename: Michele Davide
authors.initials: MD
authors.lastname: Mignogna
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D005881:Gingiva / Q000473:pathology*; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D051059:PTEN Phosphohydrolase / Q000235:genetics / Q000378:metabolism*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: Oral medicine; PTEN hamartoma tumor syndrome; genetics; neoplasms; phosphatase and tensin homolog