Introduction
Neurofibromatosis type 1 (NF1), primarily characterized by cutaneous neurofibromas and cafe-au-lait spots, often extends to oral manifestations. Neurofibromas in the oral cavity, though rare (present in about 2-7% of cases), have been documented primarily on the tongue, palate, and buccal mucosa. When located in the periodontal membrane, neurofibromas can affect tooth positioning and alveolar bone structure.1, 2 Though periodontal involvement in NF1 is not widely reported, it can present unique diagnostic challenges. This report highlights a case where NF1 was associated with generalized aggressive periodontitis, providing a comprehensive approach to diagnosis and management in a dental setting.
Case Report
A 30-year-old male presented with complaints of pain and swelling in the lower right and left posterior regions for over a year, worsening in the past three days, especially during mastication. He had multiple faint, rounded skin lesions and a history of kidney stones. The patient reported that his father had similar skin lesions, suggesting a hereditary component. Clinical examination revealed generalized poor oral hygiene, with gingiva showing a bluish hue, swollen margins, and areas of recession. Probing depths ranged from 5-10 mm, with significant clinical attachment loss (5-12 mm) and tooth mobility in specific sites. Radiographic evaluation indicated generalized horizontal bone loss and some vertical defects, along with widened mandibular canals—a rare finding that aligns with NF1 oral characteristics. (Figure 1, Figure 2, Figure 3)
Methods
Following STROBE guidelines, diagnostic assessments included clinical probing, attachment level measurement, and radiographic imaging to evaluate alveolar bone levels. Diagnostic criteria for NF1, based on NIH guidelines, included two or more hallmark features: cafe-au-lait macules and neurofibromas. Periodontal assessment focused on probing depths, attachment loss, and radiographic examination of bone structure.
Result
The periodontal assessment confirmed generalized aggressive periodontitis with probing depths of 5-10 mm, Miller's Class II recession in specific sites, and severe horizontal and vertical bone loss (60-75%) across all quadrants. Radiographically, findings included enlarged mandibular and mental foramina, which are consistent with NF1. The diagnosis of NF1 was further substantiated by the presence of characteristic skin lesions and family history, in conjunction with clinical and radiographic evidence.
Discussion
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder characterized by genetic mutations affecting the neurofibromin protein, which plays a role in cell growth regulation. Typically recognized for its cutaneous manifestations, including café-au-lait spots, neurofibromas, and freckling in body folds, NF1 also commonly affects the skeletal system. However, its oral manifestations, especially periodontal involvement, are less frequently described and under-recognized in clinical practice.3 This case report sheds light on the aggressive periodontal disease associated with NF1, suggesting that NF1 might predispose patients to severe periodontal complications that require early identification and comprehensive management.
Oral and periodontal manifestations in NF1 are diverse, with approximately 72% of NF1 patients exhibiting some form of oral anomaly, as shown in studies by Cunha et al. (2004)4 and D’Ambrosio et al. (2011)5 findings range from benign neurofibromas affecting the lips, tongue, palate, and gingiva to osseous changes that include widened inferior alveolar canals, mandibular dysplasia, and enlarged mandibular foramina, as noted by Friedman et al.6 (1981) and later corroborated in a case series by Ueda et al. (2012).7 Macro gingival neurofibromas, as noted in this case, can complicate dental hygiene practices and exacerbate plaque retention, potentially accelerating the progression of periodontal disease.
Previous case studies have documented gingival and oral tissue manifestations associated with NF1. For example, Bekisz and Darimont (2000), 8 described gingival overgrowth in an NF1 patient, which led to increased periodontal pocketing and bleeding, aligning with findings in the present case . Similarly described neurofibromas on the gingiva, causing functional difficulties and necessitating a tailored dental management approach. Periodontal disease in NF1 patients could be multifactorial, stemming from both mechanical issues due to enlarged gingival tissues and possible genetic influences that impact immune function and wound healing in NF1 patients.
The aggressive periodontitis observed in this case aligns with a growing body of literature suggesting that NF1 may have broader implications on periodontal health. For instance9 highlighted that NF1 patients might exhibit altered responses to inflammation, a key factor in the progression of periodontal disease. A case series by Tonello 2017)10 further supported this, noting severe periodontitis in several NF1 patients with gingival neurofibromas, who required extensive periodontal therapy to manage the condition. These findings underscore that periodontal issues in NF1 may not simply be a result of poor oral hygiene due to anatomical obstacles but could also stem from underlying inflammatory dysregulation associated with the disorder.
This case underscores the importance of a multidisciplinary approach when managing NF1 patients with periodontal disease. Collaboration between dental professionals, geneticists, and medical practitioners ensures a holistic treatment approach that addresses both the systemic and localized challenges posed by NF1. Given the complexity of oral manifestations and the potential for rapid periodontal breakdown, early intervention and preventive care are essential. Customizing periodontal management for NF1 patients, including more frequent scaling and root planing, may help mitigate disease progression.
Future research should focus on exploring the prevalence and severity of periodontal disease in NF1 populations, as well as investigating the genetic and immunological pathways that may contribute to this association. Establishing standardized periodontal care protocols tailored for NF1 patients could lead to improved outcomes and enhanced quality of life. Further studies, such as those emphasize the need for a structured approach to managing oral manifestations in NF1, with regular follow-ups and adjustments to treatment based on individual needs
Conclusion
This case of NF1 with aggressive periodontitis emphasizes the need for dentists to be vigilant in recognizing and addressing the oral manifestations of genetic disorders. Comprehensive, multidisciplinary care is crucial for managing NF1 patients to prevent neurological complications and potential malignant transformations.
