Blue rubber bleb nevus syndrome

A rare sporadic disorder of venous malformation affecting skin and viscera.

No clear-cut genetic link.

Associated with TEK tyrosine kinase mutation.

Characterized by dark blue, rubbery, somewhat compressible swellings within the dermis and subcutaneous structures (Bean WB).

There may be a few or hundreds of lesions, and the differential diagnosis includes slow-growing cutaneous metastases from a melanoma.

Malignant change has not been reported.

The cutaneous lesions do not bleed.

Other differential diagnoses include Oslo Weber-Rendu syndrome, familial cutaneous and mucosal malformation syndrome, familial glomangiomatosis, diffuse neonatal hemangiomatosis, and Maffuci syndrome.

Diagnosed based on clinical findings and supported by skin biopsy results.

Lesions are similar to other venous malformations, with enlarged vascular channels lined by endothelial cells.

Similar lesions in the skin can occur in the gastrointestinal tract with venous malformations and they may cause chronic iron deficiency, intussusception, or occult hemorrhage.

Lesions may occur in the CNS, orbit, nasal cavity, thyroid, lung, liver, kidney, and spleen.

Clinical features vary by the above site of involvement.

Gastrointestinal bleeding is the most common cause of mortality.

Treatment varies depending upon the site of the lesions, their size, and the number of lesions.

Lesions of the skin of been treated with excision, sclerotherapy, cryosurgery, and laser treatments.

Gastrointestinal tract disease can be treated with resection, photocoagulation, laser, sclerosis therapy, and banding ligation.

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