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 are mild to moderate with a good prognosis.
An 18-year-old man with early onset of BRBNS in early childhood is reported. He presents 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 is 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.
This case of critical BRBNS with gastrointestinal hemorrhage and severe joint fusion provides further understanding of this rare disease. Read the full article here.