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There are three major clinically and genetically distinct forms of neurofibromatosis: neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis. NF1, also known as von Recklinghausen disease, is the most common type. The hallmarks of NF1 are the multiple café-au-lait macules and neurofibromas. The condition is called segmental NF1 when clinical features are limited to one area of the body.We report a rare case of a 16-year-old man with neurofibroma of the left breast accompanied by PS. Physical examination showed a mass in the left breast with skin hyperpigmentation and increased body hair.
Intraoperative exploration showed a mass measuring 3–4 cm between the dysplastic pectoralis major and minor muscles. Pathologic examination of the resected mass showed cutaneous diffuse neurofibroma. A simple left mastectomy was performed. The postoperative course was uneventful with no evidence of recurrence at 4 months. Soft-tissue sarcomas, which result in approximately 10,700 diagnoses and 3,800 deaths per year in the United States1, show remarkable histologic diversity, with more than 50 recognized subtypes2. However, knowledge of their genomic alterations is limited.
