BLUE RUBBER BLEB NEVUS SYNDROME

By Gary M. White, MD

Blue Rubber Bleb Nevus Syndrome Vascular blebs that blanch with compression.


Blue rubber bleb nevus syndrome (BRBNS), also known as Bean syndrome, is a rare disorder characterized by cutaneous and gastrointestinal venous malformations. The gastrointestinal lesions can cause intestinal bleeding and a chronic anemia. Most cases are sporadic, although some instances of an autosomal dominant inheritance pattern have been documented. The onset is usually at birth with the progressive accumulation of lesions over time. There is no sex predilection. Most reported cases occur in Caucasians. The GI lesions may occur anywhere from the mouth to the anus, but are most common in the small intestine. Rarely, vascular malformations may develop in any of a variety of organs.  They may be noted on ultrasound in the prenatal period. CNS bleeding has rarely resulted in death [Peds Derm 2016;33;e29].

Clinical

The lesions are blue or red, soft, easily compressible nodules. They may be a few mm to multiple cm in size. Some lesions are large, macular discolorations.  In one series, the average age of onset of clinical lesions was 15 years [Medicine (Baltimore). 2017 Aug;96(33):e7792].

Diagnosis

Clinical examination, histopathologic features, and negative immunohistochemical staining for GLUT-1, LYVE-1, and D2-40 allow for diagnosis.

Potentially Fatal Complications

Possible causes of death include gastrointestinal bleeding, thrombotic complications, and coagulopathies.

Treatment

A CBC and stool guiac should be done to look for any loss of blood from the GI tract. Further GI imaging may be necessary. GI lesions causing excessive blood loss may necessitate removal or ablation. Oral iron supplementation is commonly needed and even blood transfusions may be necessary. Cutaneous lesions are best ignored unless cosmesis or functional impairment is a problem. In such cases, lesions may be treated with laser (e.g., Alexandrite, Nd:YAG), sclerotherapy, or surgery. Systemic steroids have been used for systemic bleeding.

Oral rapamycin was used with success in one case [Actas Dermosifiliogr. 2014 Sep 12].

Additional Pictures

Here, the lesions above have been compressed.
Blue Rubber Bleb Nevus Syndrome

References

Unilateral BRBNS. A 21-year-old lady presents with multiple nontender, soft, rubbery, and compressible swellings distributed over the right side of the chest and right upper limb in a blaschkoid distribution. These lesions first appeared on the right side of the chest during her childhood and they gradually increased in number and size with age. Indian J Dermatol. 2015 Nov-Dec; 60(6): 616–619

Indian J Pathol Microbiol 2015;58:258-9
Indian J Paediatr Dermatol 2015;16:210-3


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