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Can anyone out there answer this?

alyssa06
0 Recommendations

Just a quick question. I have heard of some people describing that they have these distinct birth marks that are associated with VHL. I myself have two small birth marks that lack pigmentation. I was wondering if this is the same type of thing others see? I asked one doctor and he said that usually people with VHL have more than what I do and that they usually appear within the first year of life. Another doctor told me that these distinct birthmarks can be related to a different type of genetic disease. I am wondering this because I haven't had my daughter tested yet but she is now 17 months and shows no sign of these birth marks. If anyone could shed some light on which doctor might be right please let me know. Thanks.

Tara

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Surgery

5 replies

AEckerman

Hi Tara,

I, personally, have only heard of cafe-au-laite birthmarks being associated with NF, another genetic disease.

Alison

joyceg98

Most people have some form of birthmark.

Cafe-au-lait spots are harmless birthmarks that are usually flat and look more or less the color of coffee with milk. In other words, a few shade darker than the rest of your skin, but otherwise not remarkable.

Port wine stains are darker (the color of port wine), and vascular birthmarks include a number of additional blood vessels. These are sometimes connected with a few specific genetic syndromes (not VHL). See birthmarks.com.

My husband (who had VHL) had one cafe-au-lait spot on his back that looked rather like a baby's footprint.

My son also has a mark that looks almost the same, in the same position, but a little smaller. Amazing what's encoded in all those genes!

One doctor once told me that the cafe-au-lait spot was the indicator that my son had VHL. He was later diagnosed with VHL. So of course I raised this same question that you are raising with a number of doctors.

None of the doctors I asked feels that this is a serious component of the VHL syndrome. Your odds of having some birthmark are quite good, so a number of people with VHL may have birthmarks just because we are members of the general population, and not necessarily connected with VHL.

Furthermore, they are not useful as a diagnostic tool (because lots of people who have them do not have VHL), and they are not important medically (they do not cause a medical problem).

In other words, that's a long way of saying: No, they are not connected with VHL.

Best wishes,
Joyce

eramsteven

Hi,

When my son was about 2 years old, he developed a red bump on his face. It was very small and at times would swell a little bit.

He had it removed 2 years ago, age 11, it was diagnosed as an angiofibroma. I have never heard of this as a part of VHL but is was a very rare, vascular, benign growth on his face. It just sounds too much like VHL to simply rule it out as being coincidental. Just my opinion.

Emily Stevens

chaos

Before I was diagnosed with VHL, I noticed that my daughter (then 3) had 2 cafe au lait birthmarks on her back. I had her pediatrician look at them and he referred me to Children's Hospital of Pennsylvania - NF Department. I was told that she did not have NF. What a relief.

In 2003, I was diagnosed with VHL and had emergency surgery. Within the next year, I had both of my children tested for VHL. My son, tested positive. My daughter, who has the cafe au lait birthmarks, was tested negative.

I had both children tested early not only for medical reasons, but peace of mind.

hraeclark

Hi... I'm actually out NIH for the 1st time this week and I have had this "spot" on my chest for quite a while now and just asked my doctor about it. She said that it is this cafe-au-lait spot that everyone is talking about. I am also being asked to watch a birthmark on my lower abdomen area that I've had since I was born... anyone else have issues with this?

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