J’s Story – Skin Bumps to Kidney Surgery

J was diagnosed with Birt-Hogg-Dubé syndrome (BHD) 10 years after noticing the first white bump on her skin. She shared her BHD story from diagnosis to surgery and we discussed the importance of raising awareness.   

Diagnosis

The first symptom of BHD that J became aware of, although she did not realise the cause at the time, was white skin bumps. When researching what they could be she found nothing to suggest BHD. 10 years later the radiologist reviewing the scans of her youngest daughter who had multiple pneumothoraxes requiring surgery, noted that the blebs in her lungs were ‘not the right shape’, and suspected it could be BHD. She was referred to a doctor in Paris for genetic testing.

J discussed her daughter’s case with her GP, who advised her ‘not to worry and stop looking things up on the Internet.’ The GP had not previously heard of BHD. Similarly, the local dermatologist who J saw was unable to identify the fibrofolliculomas and had never heard of BHD. J decided to pick the brains of her daughter-in-law, a dermatologist living in Bordeaux, who immediately recognized the face bumps as fibrofolliculomas and said she was likely to have BHD. This led to genetic testing which confirmed BHD. Both J’s children tested positive for BHD and one of her two grandchildren. J’s lung collapse at the age of 52 and her eldest daughter’s at 17 suddenly made sense.

J began to have kidney screening, as one of the characteristics of BHD is kidney cancer. On the first MRI, a 18mm cyst was discovered in one of her kidneys. Two years after initial identification it had increased in size to 33mm and was successfully surgically removed in December 2020.

Screening

J has MRI scans every year to monitor her kidneys as advised by her doctors.  

Finding a Doctor

One of the biggest challenges for J was finding a doctor who had heard of BHD and could advise on management. She was not able to find anyone in her own town (75.000 inhabitants) so had to look further afield.

Advice

J is very passionate about raising awareness of BHD, identifying doctors, and sharing knowledge. Her advice to those in the BHD community is to ‘find out as much as you can, talk on FB, find a specialist who you can talk to about it…and try not to get worried’.  

The BHD Foundation sincerely thanks J for sharing her BHD experience.