Wang WJ, Chen PL, Shao HZ. Blue rubber blister nevus syndrome: A case report. World J Gastrointest Surg 2024; 16(11): 3584-3589 [DOI: 10.4240/wjgs.v16.i11.3584]
Corresponding Author of This Article
Huan-Zhang Shao, MD, PhD, Chief Doctor, Department of Critical Care Medicine, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, No. 7 Weiwu Road, Zhengzhou 450003, Henan Province, China. shaohuanzhang@zzu.edu.cn
Research Domain of This Article
Critical Care 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 Gastrointest Surg. Nov 27, 2024; 16(11): 3584-3589 Published online Nov 27, 2024. doi: 10.4240/wjgs.v16.i11.3584
Blue rubber blister nevus syndrome: A case report
Wen-Jing Wang, Pei-Li Chen, Huan-Zhang Shao
Wen-Jing Wang, Pei-Li Chen, Huan-Zhang Shao, Department of Critical Care Medicine, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou 450003, Henan Province, China
Wen-Jing Wang, Pei-Li Chen, Huan-Zhang Shao, Department of Critical Care Medicine, Henan Provincial People's Hospital, People's Hospital of Henan University, Zhengzhou 450003, Henan Province, China
Author contributions: Wang WJ collected, wrote and followed up the cases; Chen PL provided language corrections, and Shao HZ supervised the patient's treatment and was responsible for the final review of the manuscript.
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 to disclose.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Huan-Zhang Shao, MD, PhD, Chief Doctor, Department of Critical Care Medicine, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, No. 7 Weiwu Road, Zhengzhou 450003, Henan Province, China. shaohuanzhang@zzu.edu.cn
Received: April 23, 2024 Revised: September 5, 2024 Accepted: September 25, 2024 Published online: November 27, 2024 Processing time: 190 Days and 0 Hours
Abstract
BACKGROUND
Blue rubber blister nevus syndrome (BRBNS) is a congenital, rare disease characterized by venous malformations of the skin and internal organs, affecting all systems throughout the body. The pathogenesis is unknown. There is no consensus on the treatment of BRBNS. Most of the previously reported cases were mild to moderate with a good prognosis, and this case was a critically ill patient with severe gastrointestinal hemorrhage, disseminated intravascular coagulation (DIC), and severe joint fusion that was different from previously reported cases.
CASE SUMMARY
An 18-year-old man with early onset of BRBNS in early childhood is reported. He presented with recurrent melena and underwent malformed phlebectomy and partial jejunectomy and ileal resection. The patient had melena before and after surgery. After active treatment, the patient's gastrointestinal bleeding improved. This was a case of atypical BRBNS with severe gastrointestinal bleeding and severe joint fusion, which should be differentiated from other serious joint lesions and provide clinicians with better understanding of this rare disease.
CONCLUSION
This case of critical BRBNS with gastrointestinal hemorrhage, DIC and severe joint fusion provides further understanding of this rare disease.
Core Tip: Blue rubber blister nevus syndrome is a rare disease. The mechanism of the disease is not fully understood. Lack of awareness among clinicians leads to delays in diagnosis and treatment. This severe case had a long course of illness and difficult diagnosis and treatment. The patient was treated with surgery because the gastrointestinal bleeding did not resolve after medication, repeated intervention and other treatments. The patient had severe joint fusion and was unable to walk, which seriously affected his quality of life. Clinicians should pay attention to the differential diagnosis of rare diseases while learning about them, so as to avoid misdiagnosis and missed diagnosis.
