Blue Rubber Bleb Nevus Syndrome is a rare congenital disorder characterized by multiple cutaneous and gastrointestinal vascular malformation and less commonly on other internal organs and brain. Till date only just around 200 of the cases have been documented on papers. The cause of this syndrome is still unclear.
Blue rubber bleb nevus syndrome may affect male and female equally and affect all the races. The skin lesion are usually seen during birth or early childhood and gastrointestinal involvement may be evident in early adulthood. When there is skin involvement lesion are usually found on upper extremities, trunk and perineum but may occur anywhere. These lesions are small, soft, bluish in color and usually are compressible which refill after compression. They usually don’t bleed or cause any pain but may be painful to palpation.
Besides skin, they may occur at any internal organs like liver, heart, lung, muscle, spleen, CNS, eyes and genitourinary tract. Most common involvement is GI tract which is a major concern because it causes hemorrhage resulting in iron deficiency anemia. Symptoms and sign may vary according to the site of involvement but when GI tract in involve, most common are fatigue and paleness of skin resulting from chronic blood loss . When bone is involved there may be joint stiffness and pain.
There is no any gold standard for the treatment of blue rubber bleb nevus and the prognosis may depend on the severity of GI complications. Studies shows that GI bleeding is the most common cause of death. The effective treatment for GI lession is still unclear. Many methods have been tried including endoscopic lasers( Nd:YAG ) photo-coagulation and plasma argon coagulation with some success. Studies reports that endoscopic sclerotherapy is ineffective further resulting in ulceration and strictures. The conservative management of GI bleeding is iron supplements for anaemia. In addition steroids, octreotide and interferon have been used to minimize the bleeding episodes.
Skin lesion are harmless. But if they are bothersome they can be treated with liquid nitrogen, electrodesiccation and curettage or surgical excision. These treatment modalities may result in scarring and recurrence. Carbon dioxide lasers may be effective in treating these lesion without scarring, few research suggests.