Oral findings and oral health-related quality of life in children with neurofibromatosis type 1: a case-control study

This study aimed to evaluate intraoral findings, oral-health-status, and their relationship with general and oral-health–related-quality-of-life in children diagnosed with neurofibromatosis type1, compared to healthy children. Fifty children with neurofibromatosis-type1 and fifty healthy children of similar age and gender underwent thorough oral examinations. Evaluations included the presence of dental caries, enamel hypoplasia, malocclusions, gingiva and plaque levels, and soft tissue abnormalities. Additional assessments included panoramic dental imaging and clinical photographs. General-quality-of-life was measured using a validated child-health-questionnaire, and oral health–related-quality-of-life was assessed through age-appropriate caregiver-reported surveys. Statistical comparisons between groups were conducted using appropriate significance tests, with a threshold of p < 0.05. There were no significant differences between groups in terms of tooth decay, enamel defects, or jaw relationships. Children with neurofibromatosis type 1 had lower gingival health scores and significantly reduced general quality of life. Younger children reported better oral-health–related-quality-of-life, while older children experienced greater family-related impacts. Although oral health issues in children with neurofibromatosis type 1 were generally mild, their overall and oral health–related quality of life were meaningfully reduced. These findings underscore the importance of including dental professionals in the multidisciplinary care of children with this condition. Recognizing oral signs of NF1 early helps pediatric dentists guide timely referrals and coordinated care. Even mild oral findings can impair children’s quality of life, emphasizing the need for regular monitoring and tailored dental care. Including dentists in multidisciplinary NF1 teams supports both medical and psychosocial well-being.