Do I have BHD?

If you answer yes to one or more of the following questions, you should talk to your doctor about BHD.

• Do you have any pale/skin-coloured skin bumps on your face, ears, neck or upper body?
• Have you ever had a collapsed lung for no clear reason, or been told you have lung cysts?
• Have you ever had more than one kidney cyst or tumour?
• Does anyone in your family have BHD or any of these symptoms?

It’s important to remember having these symptoms doesn’t mean you have BHD. There are other conditions that can cause similar symptoms.

Testing for BHD

To know if you have BHD, you need to have a genetic test. This test will look for mutations in folliculin the gene that causes BHD. You may also have scans of your chest, kidneys and a sample of a skin bump taken. Based on the results of test tests, your family history and symptoms you may be diagnosed with BHD.

What else could it be?

Lung Conditions

If you experience recurrent lung collapses or you have a family history of lung collapses, it is more likely that there is an underlying cause, such as BHD or one of the conditions below.

Genetic conditions other than BHD syndrome which may cause lung collapses include:

• Marfan syndrome
• vascular Ehlers-Danlos syndrome
• Loeys-Dietz syndrome
• tuberous sclerosis/
• lymphangioleiomyomatosis (LAM)
• alpha-1 antitrypsin deficiency.

Visit Lung and Asthma UK for other causes of lung collapses.

 
Kidney Cancer Conditions

Your kidney cancer may be hereditary if:

• You have more than one tumour in a kidney (multifocal tumours)
• You have tumours in both kidneys (bilateral tumours)
• You have a family history of kidney cancer
• You were 50 years old or younger when you had your first kidney tumour.

Genetic conditions other than BHD that can cause kidney cancer or kidney cysts include:

• Von Hippel-Lindau (VHL)
• Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
• Hereditary Papillary Renal Cell Carcinoma (HPRC)
• Tuberous Sclerosis Complex (TSC)

Skin Conditions

BHD is the only condition that causes skin bumps called fibrofolliculomas. However other conditions have skin bumps that look similar to those seen in BHD. These include:

• Basaloid follicular hamartoma
• Brooke-Spiegler Syndrome
• Cowden Syndrome
• Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
• Rombo Syndrome
• Tuberous sclerosis
• Familial multiple discoid fibromas