The Diagnosis

The first symptom of BHD that I noticed, without understanding its origin, was the appearance of white bumps on my forehead and on the sides of my nose, in 2014, when I was 66 years old. I did some research but found no clue or information that might suggest BHD.

In 2016, the radiologist reviewing scans of my younger daughter, then 26, who had suffered several pneumothoraxes requiring multiple surgeries between 2012 and 2020, observed that the cysts in her lungs showed “bilateral bullous formations whose morphology and location suggest BHD disease.” My daughter consulted her pulmonologist in Paris, who ordered a genetic test.

While waiting for the results of that test (12 months), I wanted to discuss my case with my general practitioner. He advised me “to stop worrying unnecessarily and wasting time on the Internet.” He had never heard of BHD.

Similarly, my local dermatologist did not recognize the fibrofolliculomas on my face. He merely took pictures…

I decided to consult a dermatologist in Bordeaux, who confirmed that it was very likely BHD. This diagnosis enabled me to undergo genetic testing, and in 2017 I was declared positive for BHD.

My eldest daughter, then 51 (who had experienced a spontaneous pneumothorax at age 17), was also tested, as well as my granddaughter, aged 19. Both turned out to be positive for BHD. My grandson had to wait until the legal age to be tested. Fortunately, he was negative.

Thus, the repeated pneumothoraxes of my younger daughter, my eldest daughter at 17, and my own pneumothorax at 52, finally had an explanation.

I began monitoring my kidneys, since one of the hallmarks of BHD is kidney cancer. On the first MRI, a tumour of 18 mm appeared in the left kidney. Two years later, the tumour measured 33 mm. It was decided to remove it: a urological surgeon in Bordeaux, familiar with BHD, performed the surgery in December 2020. Fortunately, it turned out to be a benign oncocytoma. But the risk remains, as BHD kidney tumors can be hybrid (chromophobe carcinomas) and reappear in either kidney.

Monitoring

Following my surgeon’s advice, I now undergo a kidney MRI every year.