Mu X, Zhang HY, Shen YH, Yang HY. Familial left cervical neurofibromatosis 1 with scoliosis: A case report. World J Clin Cases 2021; 9(29): 8839-8845 [PMID: 34734064 DOI: 10.12998/wjcc.v9.i29.8839]
Corresponding Author of This Article
Hong-Yu Yang, PhD, Chief Physician, Doctor, School of Stomatology, Zunyi Medical University, No. 6 Xuefu West Road, Xinpu New District, Zunyi 563000, Guizhou Province, China. hyyang192@hotmail.com
Research Domain of This Article
Dentistry, Oral Surgery & Medicine
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Oct 16, 2021; 9(29): 8839-8845 Published online Oct 16, 2021. doi: 10.12998/wjcc.v9.i29.8839
Familial left cervical neurofibromatosis 1 with scoliosis: A case report
Xia Mu, Han-Yu Zhang, Yue-Hong Shen, Hong-Yu Yang
Xia Mu, Hong-Yu Yang, School of Stomatology, Zunyi Medical University, Zunyi 563000, Guizhou Province, China
Xia Mu, Yue-Hong Shen, Hong-Yu Yang, Department of Stomatology, Peking University Shenzhen Hospital, Shenzhen 518036, Guangdong Province, China
Han-Yu Zhang, Department of Oral and Maxillofacial Surgery, Peking University Shenzhen Hospital, Shenzhen 518036, Guangdong Province, China
Author contributions: Mu X reviewed the literature and drafted the manuscript; Zhang HY, Shen YH and Yang HY were responsible for revising the manuscript for intellectual content; all authors issued final approval for the version to be submitted.
Supported bythe National Natural Science Foundation of Guangdong, No. 2019A1515011911; and the Guangdong Province High-level Clinical Key Specialist, No. SZGSP008.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hong-Yu Yang, PhD, Chief Physician, Doctor, School of Stomatology, Zunyi Medical University, No. 6 Xuefu West Road, Xinpu New District, Zunyi 563000, Guizhou Province, China. hyyang192@hotmail.com
Received: April 30, 2021 Peer-review started: April 30, 2021 First decision: June 6, 2021 Revised: June 18, 2021 Accepted: August 18, 2021 Article in press: August 18, 2021 Published online: October 16, 2021
Abstract
BACKGROUND
Neurofibromatosis type 1 (NF1) is an inherited autosomal dominant disorder affecting many parts of the body with café au 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.
Core Tip: We report a familial case of slow-progressing neurofibromatosis type 1 with the presence of painless mass for 10 years and scoliosis. Histological evaluation of the mass revealed subepidermal pale blue mucoid degeneration and fibrous fusiform cells in the dermis in a fascicular, woven arrangement. Multiple operations were performed to remove the tumor.
