Blue Rubber Bleb Naevus syndrome

The Blue Rubber Bleb Naevus syndrome is a rare syndrome comprising of multiple venous malformations of the skin, gastrointestinal tract and other organs.

This chapter is set out as follows:

• Usually arises sporadically (by chance) with no other family members affected. In most cases, it arises as a result of mutation in the TEK gene

• The skin changes are usually visible at birth, and may continue to appear throughout life
• Lesions are often multiple; sometimes very large numbers are present  
• Characteristically painful, especially at night, unlike glomulovenous malformations (GVMs) that have a similar appearance but tend not to be painful unless knocked or during extreme change in temperature

Distribution

• Any part of the body

Morphology

• Lesions often quite small; occasionally can be several cm in diameter
• Blue compressible papules / nodules

Non-cutaneous features

• The Blue Rubber Bleb Naevus syndrome can be associated with internal vascular proliferations, especially of the gastrointestinal tract and skeletal system. Lesions can cause anaemia and, rarely, a serious gastrointestinal haemorrhage

• Patients are usually managed within a multidisciplinary team; MRI and endoscopy may be required to locate venous malformations in other organs

• Treatment of the skin lesions in not normally necessary 
• Management depends on the involvement of other organs