Case

A 53-year-old male presented with a chronic facial rash. He reported having several painless nodules on his face since infancy, which had remained relatively stable in size. Family history was non-contributory. Physical examination revealed multiple soft, bluish, compressible swellings of various sizes around the mouth and on the oral mucosa (Fig. 1). He denied hematemesis, melena, or hemoptysis. Laboratory analysis and colonoscopy were unremarkable. A clinical diagnosis of blue rubber bleb nevus syndrome (BRBNS) was made, and no intervention was undertaken.

Fig. 1
figure 1

Multiple soft, bluish swellings, ranging in size from 0.5–2 cm, seen periorally and on the tongue

Full size image

BRBNS is a rare vascular disorder resulting in venous malformations in the skin and viscera.1 The pathogenesis remains unclear. Cutaneous lesions are usually present since childhood, are asymptomatic, and do not usually require treatment. Histological findings include venous dilatations, but a biopsy is not needed for diagnosis. The differential diagnosis includes Osler-Weber-Rendu syndrome, Klippel-Trenaunay syndrome, Peutz Jeghers syndrome, venous lakes, and Kaposi sarcoma.2 Gastrointestinal involvement is common, and evaluation with a stool guaiac test or colonoscopy should be considered as chronic gastrointestinal blood loss can result in iron deficiency anemia.3 Therapeutic options include surgical or endoscopic intervention, although several anti-angiogenic drugs have been used successfully in reports.