Abstract: (18828 Views)
Neurofibromatosis (Von Recklinghausen syndrome) is an autosomal dominant genetic disease caused by a mutation in the gene expressing neurofibromin. It is characterized by café-au-lait macules, axillary or inguinal freckling, multiple neurofibromas, and developmental delay. Malignant transformation or sarcomatosis may occur in as many as 1.5-15% of patients.
Case report: We present a patient with Von Recklinghausen syndrome showing malignant transformation 20 years after the initial manifestations of the disease.