Blue rubber blister nevus syndrome: A case report

Area of Science:

• Vascular Malformations
• Genodermatology
• Rare Diseases

Background:

• Blue rubber blister nevus syndrome (BRBNS) is a rare congenital disorder.
• Characterized by venous malformations affecting skin and internal organs.
• Pathogenesis and optimal treatment remain unclear.

Observation:

• An 18-year-old male with early-onset BRBNS presented with severe gastrointestinal bleeding (melena).
• Underwent surgical intervention including phlebectomy and partial intestinal resection.
• Experienced persistent melena post-operatively, indicating disease severity.

Findings:

• This case presented atypically with critical gastrointestinal hemorrhage and severe joint fusion.
• Disseminated intravascular coagulation (DIC) was also noted.
• The patient's condition differed significantly from previously reported mild to moderate BRBNS cases.

Implications:

• This severe BRBNS case expands the clinical spectrum of the disease.
• Highlights the need to differentiate from other serious joint and bleeding disorders.
• Provides valuable insights for clinicians managing rare complex cases of BRBNS.