Newsletter and Focus Group Announcement


The BHD February 2021 newsletter is now available. In this issue you will find out the latest BHD news, vote on a BHD expert you would like to meet and get the BHD Facebook frame.

Read the newsletter now!

If you would like to receive future newsletters please email with the subject line “Subscribe to Newsletter”.

Focus Group

We are also looking to establish a small focus group of patients to bounce ideas around moving forward. Ideally we would have a geographic spread of people. We promise this isn’t too involved – a few emails and perhaps a zoom/teams call every now and then.

If you are interested please send an email to with the subject line “Focus group”.

A Summary of Recent Birt-Hogg-Dubé (BHD) Case Reports.

Case 1

In a recent case report, Cole et al. (2020) describe an incidental finding of bilateral kidney tumors and subsequent diagnosis of BHD in a 70-year-old man. A routine blood test suggested the presence of kidney disease, leading to an ultrasound and subsequent CT imaging. The images revealed bilateral kidney cancer and pulmonary cysts at the base of his lungs. Considering these results, alongside a medical history of multiple pneumothoraces and fibrofolliculomas, it was suspected that the patient had BHD. Genetic testing showed a mutation in the FLCN gene, supporting this diagnosis.

The patient underwent a robotic assisted surgical procedure, called a partial nephrectomy, to remove the larger kidney tumors. A tissue sample from the tumor was analyzed and the patient was diagnosed with a ‘hybrid oncocytic tumor associated with BHD’.

Cole A, Garber J, Baniak N, Hirsch M et al ‘Case of the Month’ from Brigham and Women’s Hospital, Boston: a 70-year-old man with lung cysts and bilateral renal masses. BJU International, 2020; 126: 428-432  

Case 2

A recent case report by Adhikari et al. (2021), describes a young women’s 5-year journey to be diagnosed with BHD. At the age of 30 she developed chest pain and breathlessness after air travel and was diagnosed with a pneumothorax, which was successfully treated. However, 3 months later she found herself readmitted to hospital due to another pneumothorax. On the third admission, as well as a newly collapsed lung, she was noted to have fibrofolliculomas and a family history of pneumothoraces. Further tests showed a variation of her Folliculin gene, and she was diagnosed with BHD syndrome at the age of 35.

Adhikari N, Karki A, A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome, Respiratory Medicine Case Reports, 2021; 32:101340.

Case 3

A case report by Tzilas et al (2020) describes two men with nonspecific respiratory symptoms, who were diagnosed with BHD.  A 65-year-old man presented to hospital with breathlessness and a history of recurrent respiratory infections. The chest x-ray was normal.  However, he was investigated further with a CT scan which showed lung cysts, predominately at the base of the lungs. He was noted to have fibrofolliculomas and diagnosed with BHD. The second case describes a 55-year-old man with a long-standing cough, whose CT scan showed multiple lungs cysts. Similarly, to the first patient he was noted to have fibrofolliculomas and diagnosed with BHD.  This case report discusses how lung symptoms in patients with BHD are rare, with the exception of pneumothoraces, and that lower lung cysts in the absence of any other radiological feature is suggestive of BHD.

Tzilas V, Sgouros D, Almpanis Z, Bouros D, Tzouvelekis A. Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series, Respiratory Medicine Case Reports, 2020 ; 30:101081

These case studies show how BHD can present in a variety of different way making it difficult to diagnose as it is often not recognised. Through recording cases such as these we can develop a greater understanding and raise awareness of this rare and important condition.

We Are Back!

We are so happy to be restarting our efforts at the BHD Foundation, and are here to fund research, support patients and raise awareness of BHD.  We have several exciting plans for 2021 including a virtual BHD symposium and a regular newsletter providing information on the latest BHD research and interviews from patients, researchers and doctors.

We want to provide a platform for patients, families and friends, where your voices can be heard.  

If you would like to receive our newsletters by email or would like to take part in the interview feature, please email