Familial left cervical neurofibromatosis 1 with scoliosis:A case report  

作　　者：Xia Mu Han-Yu Zhang Yue-Hong Shen Hong-Yu Yang 

机构地区：[1]School of Stomatology,Zunyi Medical University,Zunyi 563000,Guizhou Province,China [2]Department of Stomatology,Peking University Shenzhen Hospital,Shenzhen 518036,Guangdong Province,China [3]Department of Oral and Maxillofacial Surgery,Peking University Shenzhen Hospital,Shenzhen 518036,Guangdong Province,China

出　　处：《World Journal of Clinical Cases》2021年第29期8839-8845,共7页世界临床病例杂志

基　　金：the National Natural Science Foundation of Guangdong,No.2019A1515011911;the Guangdong Province High-level Clinical Key Specialist,No.SZGSP008.

摘　　要：BACKGROUND Neurofibromatosis type 1(NF1)is an inherited autosomal dominant disorder affecting many parts of the body with caféau lait spots,skeletal deformity,and scoliosis.A familial case of NF1 with scoliosis and a painless mass had not yet been reported.CASE SUMMARY We describe the case of a 15-year-old male patient with a painless lump on the left side of his neck for 10 years and scoliosis.His right shoulder was about 5 cm lower than the left,the left side of his face was deformed,and the left submandibular skin was relaxed.The folding and drooping were obvious and movement was poor.Computed tomography revealed the involvement of the neck,upper chest wall,and surrounding left shoulder,accompanied by bone changes and scoliosis.Histological evaluation showed subepidermal pale blue mucoid degeneration,fibrous fusiform cells in the dermis in a fascicular,woven arrangement.His mother had the same medical history.The diagnosis was neurofibromatosis of the left neck.Various parts of the tumor tissue were serially resected during several visits.Eight months after surgery,there was a slight tendency to regrow.CONCLUSION This case of slow-progressing NF1 highlights the importance of early diagnosis and treatment to reduce its impact on the patient’s growth and development.

关 键 词：Neurofibromatosis type 1 SCOLIOSIS Neck mass ARTERIOGRAPHY EMBOLIZATION Case report 

分 类 号：R745[医药卫生—神经病学与精神病学]