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  #1  
Old 05-13-2006, 07:56 PM
Elizabeth
 
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Default Red Ear Syndrome -- ear/nose bleeds?

I have three young sons who have The Red Ear Syndrome (intermittent hot, red ears for no reason). One also bleeds from both the inner ear canals and from the nose; these are trickling bleeds several times a month, rather than gushing bleeds. My boys have the diagnosis of Cowden Syndrome/Bannayan-Riley-Ruvalcaba Syndrome -- very rare disorder. Does anyone else have experience with the red ear syndrome and bleeding? The information we can get our hands on says it can be related to avms, which are also a hallmark of Bannayan-Riley-Ruvalcaba Syndrome, though the red ears very seldom show up in this. I have never come across anyone else with this combination.
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  #2  
Old 05-14-2006, 03:46 AM
juliemn juliemn is offline
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I've never even heard of this syndrome. How frustrating for you.

Have you been working with a geneticist? Sometimes they have the best information when it comes to such rare syndromes. I'd be happy to pop off an email to our geneticist and see if she has any information about this syndrome.

I wish I could help.

Welcome,

Julie H
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www.MeetBen.com
jshiggie@gmail.com
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  #3  
Old 05-14-2006, 03:53 AM
juliemn juliemn is offline
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I was curious about this syndrome, so I did a google. You probably already know this, but I did find a support group on MSN for this syndrome. Just in case you didn't, I thought I'd post the link.

http://groups.msn.com/cowdenssyndrome/welcome.msnw

Julie
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www.MeetBen.com
jshiggie@gmail.com
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  #4  
Old 05-14-2006, 06:17 PM
Elizabeth
 
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Default Red Ears -- CS/BRRS

Hi Julie,

I have sent two replies, but they are not showing up. Am testing with this one.

Elizabeth
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  #5  
Old 05-14-2006, 06:50 PM
Elizabeth
 
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Default Red Ears -- Cowden Syndrome/Bannayan-Riley-Ruvalcaba Syndrome

O.K......I must have done something wrong there before. Thank you for your replies, Julie. I think we have multiple vascular malformations in common. I have just read Ben's website, as a matter of fact, and I can very much empathize.

My three young sons and I have an overlap of the PTEN mutation/deletion disorders known as Cowden Syndrome (CS) and Bannayan-Riley-Ruvalcaba Syndrome (BRRS). Our fourth child has what appears to be atypical Autism and another mild version of a genetic disorder; we have yet to be able to get a firm diagnosis there. My eldest son also has Asperger Syndrome. I developed bilateral Lymphedema of the legs in early childhood, as well as 12-15 cystic lymphatic tumours under both arms. Doctors either sneered that I just had "fat legs", or they were completely stumped. In my 20s I began to get recurrent Cellulitis and Acute Lymphangitis. At that point I figured out myself that I had a lymphatic malformation, but I was unaware of the wider genetic disorder. My husband and I even saw a genetic counsellor before having children, just in case, but she told me we had nothing to worry about and I was making a mountain out of a molehill. Now years later, I know just how mistaken she was. My youngest son has Cutis Marmorata Telengiectactica Congetica (CMTC) down his right side -- also a vascular malformation. No other problems with it yet, but they could well develop as he grows. All of my boys have the hot, red ear syndrome. This was first described by Dr. James Lance of Australia, to whom I have written for any other available information. He links it it vascular issues, particularly migraine headaches. There is another case in the medical literature in which a young man had the hot red ears for 18 years, before avms developed there. BRRS is known for the terribly high risk of avms, anywhere in the body. You can see why I am so worried over the ears. Cowden Syndrome brings on tumours of many sorts, both benign and malignant. The very high risk in this part of our disorder is for brain tumours, melanoma. renal cell carcinoma, liver tumours, endometrial cancer, thyroid cancer, and breast cancer (men and women). I am registered on that MSN website, Julie, but thanks for mentioning it. I have found and read every medical article and scrap of information out there on the CS/BRRS disorders. Cowden Syndrome is very rare, and Bannayan-Riley-Ruvalcaba Syndrome is exceedingly rare. They are on the same spectrum as some cases of Proteus Syndrome (Joseph Merrick -- "Elephant Man"). I identified our syndromes myself, then went to see a Dr. Charis Eng, of the Genomic Institute, Cleveland Clinic. She is the world authority on these. She formally diagnosed us, and we are taking part in her research studies. There are still so many unknowns in this. We have to see a vascular expert for the problems in that area, however. I know of Dr. Warner and Dr. Yakes. My middle son has had mysterious headaches for a year now, and we have not even been able to get him an initial MRI at this point. The tumours we can fight only through aggressive screening for masses, or through prophylactic surgeries. We take everything one day at a time. Two of my sons have IEPs/Special Education Programs in school because of the Autism and developmental problems. The boys all have speech difficulties; all four children met milestones late, plus they have motor problems. My husband and I both work fulltime, then we put in another thirty or so hours a week on medical issues and extra school issues. We have no choice. I intend to get my children through this if it's humanly possible.

Elizabeth
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  #6  
Old 05-23-2006, 04:43 AM
juliemn juliemn is offline
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I apologize for the delay in my reply, somehow I am not subscribed to my posts anymore. I was not notified via email as usual.

What an amazing job you've done! I can empathize with the hours of medical research, though with only one child with a medical condition, I'm sure that I don't even approach the work that you do.

It's frustrating to hit that end where you're sure there's something else out there, but you just haven't been able to find it yet.

Do you think your middle son's headaches may be vascular related? With the high potential for AVM's, you would think that a doctor would have suggested an MRI to rule it out for any children affected by this syndrome. Especially one that is suffering headaches. Just my frustration vent...sorry. I know you've researched this extensively. Heck, Dr. Berenstein sent my husband home to have an MRI with our primary doctor, just because Ben has multiple vascular issues. The vascular malformations seem to run in my husbands family.

Julie
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www.MeetBen.com
jshiggie@gmail.com
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