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

Hi
I have been diagnosed with BHD. I had a phone call from my cousin in WA asking if I have the lumps on my face, I explained that I did and thus the journey began. My fathers family are mainly in WA and I learned that a lot have been diagnosed. I live in country Victoria and travelling to Melbourne. I had a trial run of laser surgery on my face to remove three of the lumps, which was a success…. but such a difficult recovery. Has anyone else gone through this?
I am about to see an Urologist at the Royal Melb Hosp in Feb, and just love all the other test (all necessary of course).

Cheers
Joy

Hello all,

Are we the first in Ireland? I am 38, four children, living in Dublin, Ireland – in great health except for this kidney tumour I have for the next few weeks… Found by luck after a routine checkup. My new years resolution is to tell all friends to have a checkup and check out anything slightly off…

I have a family member who has just been diagnosed as having BHD. He has a history including collapsed lung, and has just found a 2cm tumour in his kidney. My mother, who has not been tested, has spotted a “nodule” on her lung, and has had some papules on her skin.

All of this is suggestive of the fact that BHD may be the cause of my 4cm tumour in my right renal lobe [Bosniak IV]. My CT shows no action elsewhere, including lungs, although I do have a small number of skin lesions as well.

I am travelling to the USA to have a partial nephrectomy on February 9th 2010 in Baltimore (Johns Hopkins), and have just seen that there seems to be a centre of knowledge in Bethseda which is nearby – if someone will post details I will give them a shout.

Anyway – best regards to all living with BHD.

G

I was recently diagnosed with BHD and went through screening for kidney tumors.  The CT scan found two small(largest 1 1/2 cm) on my left kidney.   The first urologist recommended partial nephrectomy with subsequent  serial scanning, which I initially felt was a reasonable approach.  I have had a second opinion with a urologist who has more knowledge of BHD due to his affiliation with a local university hospital.   The second opinion physician suggest waiting and observing and removing the tumors when they approach 3cm.  This recommendation was based on the understanding that in BHD patients, tumor recur at a rate of 25% .   He felt it is better to stretch the life of the kidney by waiting.   Is there information out there re the recurrence rate  status post partial nephrectomy in a BHD patient?  Is there good science supporting a wait and see approach?  I would appreciated any comments and information.

Hi there, my name is Wendy and I am 50 years old.  My sister and I have BHD and have both had bilateral renal cancer and fibrofolliculomas.  My sister had a spontaneous phneumothorax in her teens and I have had bowel polyps.  I also have a condition called “sponge kidney” now, one large cyst and lots of little ones. These are monitored carefully during routine ultrasounds and CT scans.

Our renal cancer (multi-focal) was discovered accidently (four years apart) during pelvic ultrasounds.  This was back in the mid nineties.  My sister has had a radical right nephrectomy and partial left nephrectomy.  I have had a radical left nephrectomy and a partial right nephrectomy.  We were both tested for VHL but the results were negative.

No mention was ever made of  BHD, however undeterred,  I set out to “find” the cause of two sisters developing renal cancer in their thirties.  Around the same time I had noticed several whitish lumps on my face and neck.  During the course of my research I stumbled across a web page which described BHD and the associated symptoms. I approached our urologist, who quite frankly dismissed my research as he had never heard of BHD.  It took a while before I decided to carry on with my research, so I arranged to have one of my “bumps” biopsied.  The dermatologist wasn’t at all dismissive and was quite excited when the pathology  results proved that I did indeed have fibrofolliculomas.  The next step involved taking my research to our Genetic Services.  I provided them with the names of researchers specialising in BHD  in the United States.  The Genetics team contacted the researchers who kindly provided the testing protocol and my sister and I were called in for blood tests.  The first round of tests proved that we do indeed have the BHD gene. 

We are not certain, but fairly confident that we have inherited the gene from our mother.  Her father passed away in his early forties, from “cancer”.  Our mother has not had renal cancer, but did have a collapsed lung as a young girl, she has had breast cancer  (now metastatic) and uterine cancer.  She has  advanced Alzheimers disease so isn’t a candidate for genetic counselling or testing.  So, we will never really know for sure.

Our children are aware of the need for genetic testing, but have not yet taken the step to be tested

I’m not aware of any other families in Australia with BHD, and I am yet to come across a doctor here in Western Australia who has actually heard of BHD.

Hey, my name is Jonathan Long. I was just diagnosed and I’m very interested in learning what this syndrome is all about.  It’s really kind of odd.  My family has a long history of cancer, and I have a hunch now I know why. Two of my aunts have breast cancer, and claim they have the skin discolorations described by the syndrome.  I’ll be going to Bethesda for a medical trial.  For those of you who don’t know, you should give them a call.  They are paying for airfare and hotel.  All you have to pay for is meals.  All the study stuff is free.  I’m looking forward to the genetic test so I can pass the results to my family and see how many of my aunts and uncles have it… as well if seeing if my daughter inherited it.

I’m a past chairman of the Kidney Cancer Association, a voluntary health organization, succeeding its late founder, Eugene P. Schonfeld, Ph.D., in 1997, and I’ve served as a consultant and its CEO since 2002.  I’m also 20-year kidney cancer survivor, and an instrument-rated commercial pilot.  I reside in Winnetka, Illinois, with Johanna, his spouse of 23 years.  We have two children who attend an Illinois university.

I, personally, am not affected by BHD, but have obviously worked with those who are, including a former member of our organization’s governing board.  I look forward to meeting you and helping in whatever way I can.

Hi my name is Karen. I am 48 years old and live in New Zealand.

I had several collapsed lungs three years ago, and because other family members had also had collapses I participated in a research study in America and discovered BHD. My mother and her 6 siblings have all had DNA tests done and have all had positive results for BHD. This concerns me a bit, I know there is meant to be a 50% chance of passing on the mutation, but our odds are a lot worse than that! I have two children and have been hoping that at least 1 of them would not have it, now I don’t feel so confident. Has anyone else had this high an incidence of the syndrome?

All of us that have been diagnosed are now having regular kidney scans, my cousins will now all be tested.

It is good to have this site to find other people with similar experiences, BHD is a weird combination of conditions, and so unpredictable as to which symptoms, if any, may present. I’m also looking forward to improving my knowledge of the syndrome.

Cheers

Karen

I am 34, a stay at home, homeschooling mom to 3 small kids and Air Force wife.

My dad has had 3 lung surgeries and we knew that he had “blebs” in his lungs. However at age 33 my lung also collapsed. After a chest tube, then another collapse, I had the VATs with mechanical and talc pleurodesis. Since then I found the information about BHD and was tested…it was positive. No one else in my family has been officially diagnosed (my dad’s doctor blew it off as a skin disease only), but my uncle also has had a lung collapse and VATs and has the tell-tale bumps on his face.  My diagnosis showed it to be on one copy of chromosome 17 rather than on both…my understanding is that when it is on both copies you are more likely to develop kidney tumors. I don’t believe there is any family history of kidney problems.