Just doing a bit of research tonight and noticed that UO often appears with other congenital abnormalites. I know in my case it has i.e. I have a 'hole' just below one of my tear ducts - minor I know but still there. Also I have had seizures in the past - obviously something happening in the brain area! My son who was born with congenital heart condition also looks like he may be developing UO.

Just curious to find out if me and my son are the only ones out there with UO plus some other oddities!

Hi Anne,

Have you heard of other congenital abnormalities and UO? I believe my son my have it as well and would like to know a list of things to be looking out for to take to my pediatrician. Thank you for your time.

Hi again Quentin

I have both UO and AV (atrophoderma vermiculata). These shows up in quite a few syndromes i.e. noons, CFC syndrome. As these have syndromes have obvious defects it is unlikely your son has anything like that.

I have read that UO and AV can be associated with other ectodermal defects (i.e. bones. teeth, central nervous system).

Has your son got some other symptoms apart from the red cheeks and eyebrows??

Hopefully the pediatrician can allay any concerns you have about your son and obtain a diagnosis as to what is causing the redness.

Hi Anne,
Thanks for your response! I have also heard of some other defects associated with UO - like Noonan's syndrome. As of right now, my son is very healthy. I just wanted to find out if there were things that I should be looking out for in the future with UO.

Thanks again for your response and dedication to this forum.

Q

I have UO and EVHC. EVHC=eruptive vellus hair cysts. This is believed by some to be yet another disorder in the keratosis pilaris family.

Anne- Judy again- when you read about the teeth part of this research, what did you find? There seems to be no medical reason for the degenerative disc disease that is plaguing me now that I am approaching 60, so probably related to the kpa.?? I have 8 root canals and have always had good dental care-lots of crowns and dental visits in my past. My daughter has kp on her arms and her spine is rotated on its axis- hasn't caused any problems yet, but the drs. thought it unusual. Did you get the email of the picture? Judy

Hi Judy

No sorry - I haven't got the email - did you send it to gogorman "at" orcon.net.nz ? (the Private message facility on the site isn't working).

I have read a few times that UO and AV are often associated with ectodermal defects. As far as I understand the fertilised egg splits into the endoderm and ectoderm. The defect must possibly happen at this stage and go on to affect what the ectoderm creates i.e. teeth, skin, central nervous system and bones. (Please forgive me if this is not scientifically correct as I am just trying to remember what I read!)

Anyway this doesn't explain though why people who have noonans syndrome have more than the ectodermal parts of their bodies effected. So what I have said above may be a bit askew.

It had been said often that the defect occurs on the short arm of chromosome 18p and is x dominant. Anyone out there with a bit of genetic knowledge may be able to make a bit more sense of all of this.

Apart from a short bout with epilepsy and a hole below my eye which the Drs thought might be a third tear duct I seem to be okay. My son however was born with a major heart condition so I am not really 100% sure if there is a real rule as to what defects can occur with this condition or in fact if these defects are just 'coincidences'.

I have also read a couple of times that UO and AV can be 'cutaneous markers' for other syndromes i.e. a skin marker for a syndrome that comprises at least one other defect.

A genetisist in NZ was interested in me and my son and did a few tests but could not isolate anything genetically. So all in all it is all still a bit of a mystery. I am sure though as one post on this site we will begin to gain more info on the sort of things that can occur with these keritinization disorders.

My genetisist was interested to know that I had been in touch with others who had UO and AV so I will mention your problem to him by email Judy and see if he has any thoughts.

Anne-thanks again for the info-I did send the pic to your private email as you stated- my face is floating in cyberspace somewhere! Will try again. I find that my particular keratosis and spinal problems all surfaced at the same time- mid 40's during the stress that the adopted older child was causing at that time, was having lots of mental problems and hospitalizations etc. Hope the N.Z. winter is improving- has been very hot, humid here in Ogio--Judy

Hi Judy

Yes got the photos thanks - it is uncanny how similar your skin and hair colouring are to mine. Looking at your photo you seem familiar but I think it is your similiarity to me that does that!

The NZ winter is beginning to pass and the first camelias are beginning to flower in my garden so that is a good sign that spring it on its way.

Do you live in Ohio? (couldn't find Ogio on Google).

I am still perplexed as to why the UO and AV appeared in your 40's. The stress factor obviously had a part to play. It would be great to find someone who would investigate these conditions more fully and work out why they appear when they do.

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