Blue rubber bleb nevus syndrome: Prominent oral findings

Abstract

Blue rubber bleb nevus syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract. Oral cavity lesions occur in 59 to 64% of cases. We report a unique presentation of this syndrome in a 25-year-old male patient with prominent oral findings. This is a sporadic case, started during early childhood, progressively increasing in number and size. Oral vascular lesions were part of gastrointestinal involvement. Associated cardiac abnormalities were also observed. An early diagnosis of this syndrome is required as it gets complicated with bleeding, anemia and other systemic complications.

Life-threatening pharyngeal edema after sclerotherapy of oral venous malformations in a patient with blue rubber bleb nevus syndrome

“…5 Oral lesions are very common and occur in 59-64% of cases, mostly in the buccal mucosa, ventrolateral tongue, and retromolar trigone. 2 There are a wide variety of treatment strategies for symptomatic oral lesions. Smaller malformations can be treated with sclerotherapy, surgical excision, lasers, radiation therapy, electrodessication and curettage, and cryotherapy.…”

“…3 Embolization using sclerosing agents is highly efficacious and poses no risk of hemorrhage, and for this reason is considered by most physicians to be the first-line therapy. 2,3 Sclerosing agents commonly used include 5% ethanolamine oleate, 5% sodium morrhuate, 1% polidocanol, sodium tetradecil sufate, and hypertonic saline. 2,3 In a study performed on 30 patients with oral vascular lesions, the authors found that ethanolamine oleate was 100% effective in relieving symptoms and there were no serious adverse reactions.…”

“…Smaller malformations can be treated with sclerotherapy, surgical excision, lasers, radiation therapy, electrodessication and curettage, and cryotherapy. [1][2][3] Large lesions have been treated with systemic corticosteroids, sclerotherapy, and interferon alpha. 3 There are recent reports that lowdose sirolimus can be used as an anti-angiogenic agent to drastically reduce the size of the venous malformations in BRBNS.…”

“…Significantly, sclerotherapy currently represents the first-line treatment option for symptomatic oral lesions from BRBNS. 2,3 It has been described as "safe and effective" with minimal risk of serious complications. 2,3 To our knowledge, this patient's complication from the treatment of lingual venous malformations has not been reported in the literature.…”

“…2,3 It has been described as "safe and effective" with minimal risk of serious complications. 2,3 To our knowledge, this patient's complication from the treatment of lingual venous malformations has not been reported in the literature. In addition to his oral findings, our patient also demonstrated many other systemic symptoms that can be seen in BRBNS including cutaneous, soft-tissue, gastrointestinal, and neurological manifestations of disease.…”