Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease that is characterized by the presence of multiple neurofibromas, café-au-lait spots and iris hamartomas. It is well established that the incidence of tumors in patients with NF1 is high compared with the normal population and that the majority of the tumors are non-epithelial neoplasms, including neurofibromas, malignant peripheral nerve sheath tumors, gliomas and leukemia. Studies have suggested that patients with NF1 also have a significantly higher risk of certain types of carcinomas. However, the occurrence of cutaneous squamous cell carcinoma (SCC) in a patient with NF1 is extremely rare. The present study describes the second documented case of a cutaneous SCC adjacent to a neurofibroma of the forehead with histopathological analyses in a patient with NF1. An 80-year-old female with NF1 presented with a rapidly growing skin tumor of the forehead. Histopathological study of the resected forehead tumor demonstrated that there were two tumorous lesions. One was an invasive SCC and the other was a neurofibroma. The lesions were adjacent, but no continuity was present. NF1 is caused by inactivating mutations in the NF1 gene and loss of heterozygosity of this gene has been reported in neurofibromas, malignant peripheral nerve sheath tumors, gliomas and pheochromocytomas in patients with NF1. However, the genetic mechanism of carcinoma development in patients with NF1 is not well understood. Studies have suggested the role of the NF1 and/or the BRCA gene in the occurrence of breast cancer. Additional studies are required to elucidate these mechanisms.
Keywords: neurofibroma; neurofibromatosis type 1; skin; squamous cell carcinoma.