I am a 44 year old woman living in the UK. I have always had skin lesions on my face neck and upper body. I have visited doctors in the past, including a dermatologist and have never had an explanation as to why they had occurred. Recently I asked my local beautician to try and remove one of these lesions with electrolosis ? (some sort of cautersing thing I think)! With this in mind I searched the internet to see if I could purchase one of the gadgets she used as I did not fancy paying £45 each as I have a huge amount of lesions! Whilst undertaking a small amount of research on Google I noticed a photograph that was posted that looked exactly like my nose!
To cut a long story short, I found your website and went off to see my GP with the information and photographs. Although she had not heard of BHD she was genuinely interested and referred me to a dermatologist at Warwickshire Nuffield called Bruce Gee who was brilliant, it was such a relief to speak to someone that knew about BHD. Dr Gee took biopsies and subsequently confirmed that the lesions are fibrofolliculomas.
I am now awaiting genetic testing at Birmingham Womens Hospital. I have four brothers all of whom have children (I do not have children). One of my brothers has similar lesions on his face. There has be no diagnosed history of BHD in our family but there have been cancers in one side of the family.
I will update when I complete my genetic testing.
Ruth
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Update…
On 11th March 2010 I was seen by Dr Derek Lim, a specialist in genetics from the Birmingham Clinical Genetics Unit and he took blood samples for my genetic testing. This morning he telephoned me to confirm that I do have BHD. To be honest I was expecting this to be the case, I am just glad that I found out so that I can have regular screening. I will now have my first scans to check that all is OK.
This website is very helpful, particularly with the advice on telling your family about BHD, it was also the website that I initially looked at when I was trying to find out what the lesions on my face were and saw the photographs on here, so thank you for that.
How did you get on Ruth?
I too am in the UK, 53 years old, and just had the lesions on my face diagnosed as fibrofolliculomas. I feel a little stupid now as I first went to see a dermatologist about these spots over ten years ago but BHD was not mentioned then – just that I had blocked pores.
I am now awaiting appointments for some genetic testing and hope I haven’t left things too late. I have not suffered any lung issues or kidney symptoms so I guess fingers crossed.
Nice to see a site dedicated to this somewhat rare condition. Well done to the BHD Foundation.
Hi Phil
I was confirmed as having BHD shortly after the genetic testing. Three of my four brothers have tested negative to BHD and my mother is negative. My eldest brother is just about to have the gene test done, to be honest though he has no fibrofolliculomas, so I hope he is negative too.
My mothers negative test leaves just my Dad. He is quite elderly now and I do not know whether there is much point in gene testing him (particularly as once you know what a fibrofolliculoma looks like you can recognise them in other people, he has two or three around his nose). SO, I guess he is positive.
Do not feel stupid about not recognising this as something else. I did the same, I saw two dermatologists (one NHS and one privately), this was years ago and neither recognised the problem. One offered me an acid peel or dermabrasion I think, the other said there was nothing that could help my skin problem. However, it’s hardly surprising given the rarity of this condition and how relatively new this is.
I am off soon for my second scans (my last ones were 18 months ago). I have cysts on my lungs and kidney. But they may not develop into anything else at all so I try not to worry.
If you get a chance to visit one of the symposiums then I can recommend it, The speakers are fascinating (sometimes it’s a bit technical, but you get the gist of what they are talking about). The families liaison group is great, there was a woman there from the American Cancer Institute (I think that’s the right name), she was absolutely brilliant, really helped me understand everything. I cannot make the one in the USA this year but will definitely go to the next. I have some papers that were emailed to me, if you would like copies I will send them on to you, just let me know.
Oh, the good news is that even if you have a mutated folliculin gene, its seems that you may also have the longevity gene too! My grandmother was 98 when she died, my Dad is 85 and still looking good :-)
Best Wishes
Ruth
Thank you Ruth.
Sadly my Dad passed away of a heart attack back in 1986, my Mum died very recently not helped by cancer of the womb but no other cause was found, odd. Both of them had very good skin.
Yes it does seem a very small amount of people are being diagnosed with this condition, as you say it’s really rare and I don’t think enough professionals are aware of it at all.
I looked for ages for pictures that looked similar to my face and even in depth searching revealed only ‘Milia’ which is what I decided I had, it was only a recent visit to a specialist that I heard about BHD and sure enough a little more research and there it was.. Identical!!
Yes I know I shouldn’t feel stupid, after all I didn’t think for a second that spots on my face could be related to anything more serious, glad I made another appointment though. Just have to wait to find out what is going on inside now.
I have suffered a cough for many years that just wont go away, other than that I am symptom free apart from maybe a little fatigue.
Once I have results I will post up on the forum.
Hope to stay in touch.
Phil.