Blue rubber blister nevus syndrome: A case report

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.

Keywords: Blue rubber blister nevus syndrome; Gastrointestinal hemorrhage; Joint fusion; Maffucci's syndrome; Case report

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.