Abstract
Von Recklinghausen's disease or Neurofibromatosis (NF) is an autosomal dominant disorder with a frequency of 1 in 3000. Characteristically, the symptoms of patients are cafe-aulait spots, neurofibromas of the peripheral and central nerve systems, and skeletal abnormalities which develop during infancy and childhood. NF is known to be complicated by malignant tumors, which are mainly of soft tissue origin. Among head and neck malignancies, the number of soft tissue sarcomas is the most limited and this type of tumor in combination with NF is rarest. In this report, a rare case of malignant schwannoma of the mandible in von Recklinghausen's disease is presented. The patient was a 7-year-old female who complained about swelling of the right mandibular region and disturbance of mouth opening and closing. Clinically, the lesion was an elastic, hard mass about 5-cm in diameter at the right mandibular ramus. Biopsy was performed, and the histological diagnosis was malignant schwannoma. Though surgical excision, intraoperative irradiation and adjuvant chemotherapy were carried out, local recurrence and lung metastasis occurred and she died 1 year 4 months after initial diagnosis.
