Chukwuanukwu Titus O, Ukachukwu Alvan-Emeka K, Etukokwu Kenneth C, Afiadigwe Evaristus E, Apakama Akunne I, Anyabolu Arthur E, Onwukamuche Michael E
Plastic and Reconstructive Surgery Unit, Department of Surgery, Nnamdi Azikiwe University Teaching Hospital, Nnewi, NGA.
Duke Neurosurgery/Duke Global Neurosurgery and Neurology, Duke University Medical Center, Durham, USA.
Cureus. 2022 Aug 10;14(8):e27853. doi: 10.7759/cureus.27853. eCollection 2022 Aug.
Neurofibromatosis type 1 (NF1) is the most common form of neurofibromatosis. It is associated with neurofibromas, gliomas, neurofibrosarcomas, and neuroendocrine and hematopoietic tumors. We present a case of scalp plexiform neurofibromatosis associated with intrathoracic fibrosarcoma. An 18-year-old female presented with a 15-year history of plexiform scalp mass. She had multiple café-au-lait patches on her trunk and extremities and a first-degree relative with a plexiform right shoulder mass. She was managed by a multidisciplinary team of plastic and reconstructive surgeons, neurosurgeons, cardiothoracic surgeons, otorhinolaryngologists, ophthalmologists, pulmonologists, and pathologists. The histology of the excised scalp mass was that of a malignant peripheral nerve sheath tumor (neurofibrosarcoma). She subsequently developed upper chest and back pain with associated breathlessness and was found to have an intra-thoracic tumor. She had two sessions of exploratory right thoracotomy with subtotal excision of an aggressive, highly hemorrhagic, infiltrative mucinous tumor. The histology was a fibrosarcoma. The patient died a few hours following the second thoracotomy. NF1 is associated with several tumors, among which are neurofibrosarcomas. Intra-thoracic fibrosarcoma requires aggressive surgical resection; recurrence may be delayed with radiotherapy and chemotherapy. The prognosis is however poor, and survival beyond one year is unusual. Once one tumor is found, other body systems should be evaluated for the possibility of other tumors.
1型神经纤维瘤病（NF1）是最常见的神经纤维瘤病类型。它与神经纤维瘤、胶质瘤、神经纤维肉瘤以及神经内分泌和造血系统肿瘤有关。我们报告一例头皮丛状神经纤维瘤病合并胸内纤维肉瘤的病例。一名18岁女性，有15年头皮丛状肿块病史。她躯干和四肢有多处咖啡牛奶斑，且有一位一级亲属右肩部有丛状肿块。她由整形和重建外科医生、神经外科医生、心胸外科医生、耳鼻喉科医生、眼科医生、肺科医生和病理学家组成的多学科团队进行治疗。切除的头皮肿块组织学检查为恶性外周神经鞘瘤（神经纤维肉瘤）。随后，她出现上胸部和背部疼痛并伴有呼吸困难，发现有胸内肿瘤。她接受了两次右胸探查开胸手术，次全切除了一个侵袭性强、高度出血、浸润性黏液性肿瘤。组织学检查为纤维肉瘤。患者在第二次开胸手术后数小时死亡。NF1与多种肿瘤有关，其中包括神经纤维肉瘤。胸内纤维肉瘤需要积极的手术切除；放疗和化疗可能会延迟复发。然而，预后很差，存活超过一年并不常见。一旦发现一个肿瘤，应评估身体其他系统是否有其他肿瘤的可能性。
