Abstract
Neurofibromatosis type 1 (NF1), which is also known as von Recklinghausen's disease, is a multisystem genetic disease that is principally associated with cutaneous, neurologic and orthopedic manifestations. The present case report described an unusual case with a giant cutaneous neoplasm on the right breast skin of a 36-year-old female who was admitted to the Department of Breast Surgery at the Affiliated Tumor Hospital of Xinjiang Medical University (Urumqi, China). Skin mass excision was performed and histopathology confirmed the diagnosis of thoracic plexiform neurofibroma as a primary presentation of NF1. The clinical implementation of NF1 therapies necessitates meticulous consideration of various factors and should involve a multidisciplinary team with expertise in NF1.