Blue rubber bleb naevus

Area of Science:

• Dermatology
• Vascular Malformations
• Histopathology

Background:

• Blue rubber bleb nevus syndrome (BRBN) is a rare congenital disorder characterized by multiple venous malformations.
• These malformations typically affect the skin and gastrointestinal tract, but can involve other organs.
• Patients often present with painful, progressive, and compressible nodules.

Purpose of the Study:

• To report a case of blue rubber bleb nevus syndrome (BRBN) presenting solely with cutaneous manifestations.
• To emphasize the importance of histopathological confirmation in diagnosing BRBN.
• To illustrate the clinical presentation of BRBN with unique tactile characteristics.

Main Methods:

• Clinical examination of a 35-year-old female patient with multiple nodules.
• Diagnostic imaging to rule out systemic abnormalities, specifically gastrointestinal hemangiomas.
• Histopathological analysis of the cutaneous lesions to confirm the diagnosis.

Main Results:

• The patient presented with multiple, progressive, painful, tender, soft, bluish, compressible cutaneous nodules.
• Histopathological examination revealed cavernous hemangioma with a prominent smooth muscle outline.
• No evidence of gastrointestinal hemangiomas or other systemic abnormalities was found.

Conclusions:

• The diagnosis of blue rubber bleb nevus syndrome (BRBN) was confirmed, with the patient exhibiting only cutaneous lesions.
• Histopathology is crucial for differentiating BRBN from other vascular anomalies.
• This case underscores the variability in BRBN presentation, highlighting isolated cutaneous involvement.