Blue Rubber Bleb Nevus Syndrome

Description:
This is a rare blood vessel disorder in which effects the skin and internal organs. This diseases is characterized by lesions on the skin and sometimes the on the internal organs. This disease happens mostly in young children and during birth. These lesions are tender to the touch or painful when touched. Also these lesions are identifying veins and other blood vessels that did not develop properly.

Inheritance:
This disease is inherited by either parent or can be a result of a new mutation in the infected individual. The risk of passing the bad gene is 50% regardless of the sex of the baby. This disease is autosomal dominate inheritance. This means that only a single copy of an abnormal gene is necessary for the disease to take affect. Some cases are sporadic which means the condition happens in people without a history of the disease or disorder.



Symptoms:
· Excessive sweating
· Pain at night
· Hemangioma on upper arm
· Hemangioma on liver
· Hemangioma on lung
· Hemangioma on spleen
· Hemangioma on gall bladder
· Hemangioma on kidney
· Hemangioma on skeletal muscles
· Hemangioma are blood-filled
· Hemangioma are purplish-red
· Hemangioma are elevated



Daily Life:
.




Diagnosis:
Blue rubber bleb nevus syndrome is characterized by multiple hemangiomas on the skin and internal organs, mostly the intestines. This is a rare condition and some patients may have severe bleeding. Also most bleeding from the GI track I slow, minor, chronic, and occult, resulting in iron deficiency anemia. Cutaneous lesions are often apparent at birth or manifest in early childhood. Skin lesions are very characteristic like being blue, different shapes, multiple, or a few millimeters to several centimeters.


Treatment:
Blue Rubber Bleb Nevus syndrome was successfully treated with Polidocanol Sclerotherapy and Cryosurgery. Blue Rubber Bleb Nevus was also treated with Polidocanol foam. This was also treated with interferin-beta and long-term subcutaneous actreotide therapy. A 21-year-old man has been successfully treated with laser surgery. Also it was successful in removing 225 skin hemangiomas from the man.



Research:
Ten patients with Blue Rubber Bleb Nevus syndrome were treated from 1993 to 2002. Lesions were identified using complete GI endoscopy. Patients ages ranged from 2 years old to 36 years old, and these patients received an average of 53 prior blood transfusions. A mean of 137 focal GI venous malformations per patient were treated during the operation, with a surgery time of about 14 hours. Only on patient did not get successfully treated.



Additional Facts:
This disease is super rare and only 152 cases have been described worldwide. The causes for this disease are unknown. This disease is consisted of abnormal blood vessels affecting the gastrointestinal track. Also this disease is mostly seen in young children and during birth. This disease is not normally fatal but to some people it is. Blue Rubber Bleb Nevus syndrome is not seen in most adults.




Punnett Square:

ZacharyS_punnett_square.PNG




Pedigree Chart:

ZacharyS_pedigree_chart.PNG

Picture:

Brbns.jpgBRBN.jpg
Resources;
For further information on Blue Rubber Bleb Nevus Syndrome see these sites:
http://children.webmd.com/blue-rubber-bleb-nevus
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356993/ http://rarediseases.info.nih.gov/GARD/Condition/5940/Blue_rubber_bleb_nevus.aspx