RESUMEN
AIMS: Cohen syndrome (CS) is an uncommon autosomal recessive disorder due to mutations in vacuolar protein sorting 13B, with an intermittent presence of neutropenia. Contrary to other clinical phenotypic features, oral health has been little investigated in CS. We described oral health and dental hygiene in a cohort of CS patients. METHODS AND RESULTS: Twelve CS patients with neutropenia (<1500/mm3 ) were recruited in the dental department of Dijon University Hospital (France). Patients underwent oral examination, and blood samples were collected. Oral health markers were described and compared between patients with moderate and severe neutropenia (<500/mm3 ). In 12 patients (mean age = 21.1 years, SD = 13.7, six females), 45.5% brushed at least twice daily their teeth, and the same percentage annually visited a dentist. Dental plaque index was high (mean = 1.7, SD = 1.4). So was the number of lost teeth per patient, notably among adults (mean = 13.8, SD = 9.8). Elevated markers of periodontitis were noted as percentage of bleeding dental sites (mean = 70.2%, SD = 45.2%) or Gingival Index (mean = 2.2, SD = 1.0). The severity of neutropenia was correlated to the level of tooth-loss (P = .03). CONCLUSION: This study highlighted in CS patients worrisome oral health and dental follow-up in the context of intellectual disability with behavioural anomalies. More attention is needed by care-givers on oral condition in CS.