2006 Volume 52 Issue 10 Pages 569-573
Von Recklinghausen's disease is characterized by multiple neurofibromas of the skin and nervous system, with unique systemic pigmented skin lesions (café au lait spots). While these lesions are seen systemically, mandibular deformation is rare. We describe a 13-year-old girl in whom von Recklinghausen's disease was diagnosed at the age of 2 years 5 months. Her brother and sister also have von Recklinghausen's disease. Café au lait spots were seen on the right forearm, left thigh, right lower thigh, left lower prolabium, and left mandibular angle. Two Lisch nodules were detected in the right iris. The patient had borderline to mild mental retardation. Palatal deviation of the right maxillary second premolar was the only abnormality apparent in the oral cavity. A panoramic X-ray film revealed a crescent-shaped bone defect with a clear border at the left mandibular angle. Compressive resorption due to a tumor was suspected. However, magnetic resonance imaging and computed tomography showed no evidence of a tumor or cyst. Parts of the masseter muscle and parotid gland were observed in the defect. There was no resorption of cortical bone. The left maxillary third molar was subsequently extracted because of periodontitis. The postoperative course of the patient has been favorable.
