Von Recklinghausen disease - case report and literature review

Abstract

The authors present a Von Recklinghausen Disease (neurofibromatosis type 1) literature review and report a clinical case of a patient with massive stomatologic injuries, focusing on its clinical and radiographic aspects. Neurofibromatosis is a neurodermal disease, which might appear in at least eight different forms, being the neurofibromatosis type 1 (NF1) the most common. While typically considered a dermatologic disorder, intraoral signs occur quite commonly. A 22-year-old female patient attended at the HCPA Estomatologic Service referring a swelling in the face, which was compromising her vision. Physical examination has revealed swelling in both upper and lower alveolar ridges on the left side, and, radiographically, it showed high bone injury. After a careful examination, signs and symptoms suggested NF1, later confirmed by histological examination. The functional and aesthetic damage that NF1 may cause to the patient and the increased risk of malignancy transformation make the early diagnosis fundamental to case prognosis. The presence of oral manifestations makes the dentist, amongst other professionals, responsible for the disease identification.