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Blue rubber-bleb nevus syndrome

S H Wong, W Y Lau

Diseases of the Colon and Rectum

|May 1, 1982

Summary

Blue rubber-bleb nevus syndrome, a rare condition, presented uniquely in a Chinese patient with multiple intestinal intussusceptions and a penile lesion. Successful aggressive surgical management was achieved.

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Area of Science:

Medical Case Report
Rare Genetic Syndromes
Vascular Malformations

Background:

Blue rubber-bleb nevus syndrome (BRBNS) is an extremely rare congenital disorder characterized by multiple cavernous hemangiomas in the skin and gastrointestinal tract.
BRBNS can lead to significant complications, including chronic bleeding, anemia, and intussusception, posing diagnostic and therapeutic challenges.

Observation:

A 22-year-old Chinese male presented with a rare constellation of BRBNS manifestations.
Key clinical observations included five distinct episodes of ileo-ileal intussusception, each with a hemangioma serving as the lead point.
An unusual angiomatous lesion was identified on the glans penis.

Findings:

This case represents the first documented instance of BRBNS in a Chinese individual.
Operative findings confirmed multiple hemangiomas acting as lead points for recurrent intussusceptions.
Preoperative and perioperative investigations, including intraoperative colonoscopy, were crucial for precise localization of gastrointestinal hemangiomas.

Implications:

The successful aggressive surgical intervention highlights the importance of a proactive management strategy for complex BRBNS cases.
This report expands the known phenotypic spectrum and geographic distribution of blue rubber-bleb nevus syndrome.
Early and accurate diagnosis through advanced imaging and endoscopic techniques is vital for effective surgical planning and patient outcomes.

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