genetic disorders

genetic disorders

Wednesday, November 10, 2010

What is Blue rubber bleb nevus syndrome?

Blue rubber bleb nevus syndrome (BRBNS) is a syndrome characterized by multiple cutaneous venous
malformations in association with visceral lesions, most commonly affecting the GI tract. In 1860, Gascoyen first described an association between cavernous hemangiomas of the skin and similar lesions in the GI tract. In 1958, Bean further described these lesions and coined the term blue rubber bleb nevus syndrome.
Blue rubber bleb nevus syndrome is an important syndrome because of its potential for serious or fatal bleeding.
Note the image below.










Frequency


International


Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with only approximately 150 cases reported in the world's literature. Most cases are sporadic, but autosomal dominant inheritance has been reported.




Cause
The causes of this syndrome are unknown. Not more than a few hundred cases have been described worldwide.






Sex


Blue rubber bleb nevus syndrome (BRBNS) affects males and females equally..



Treatment

No systemic therapy is currently considered a standard of care for blue rubber bleb nevus syndrome (BRBNS).. One report of blue rubber bleb nevus syndrome indicated the successful use of interferon-beta to treat the manifestations of disseminated intravascular coagulation in one patient with disseminated skin and GI venous malformations.






What are the symptoms of the Blue Rubber Bleb Nevus Syndrome?


Most lesions are asymptomatic but some may be spontaneously painful or tender to palpation. Patients may note increased sweating on the skin overlying the lesion. Physical complaints or symptoms vary depending on the organ system involved Patients may report fatigue from occult blood loss. Hematemesis, melena or frank rectal bleeding may prompt emergent presentations. When bone is involved, there may be complaints of joint pain or impaired ambulation. Extracutaneous lesions also may result in epistaxis, hemoptysis, hematuria, or menorrhagia. Patients may present with blindness due to cerebral or cerebellar cavernomas that may hemorrhage into the occipital lobes.





References

http://emedicine.medscape.com/article/1082839-overview
http://pediatrics.aappublications.org/cgi/content/abstract/107/2/418
http://www.birthmarks.us/BRBNS.htm





No comments:

Post a Comment