New research helps doctors tell BHD apart from similar skin conditions

A new research study has uncovered an important feature that may help doctors recognise Birt-Hogg-Dubé (BHD) syndrome earlier. It could also help distinguish it from another rare genetic skin condition called CYLD cutaneous syndrome (CCS).

Diagnosing BHD sooner can lead to the right monitoring and care. This includes screening for associated cancer risks.  This screening can improve long-term health outcomes for BHD patients.

Understanding the role of skin tumours

People with genetic syndromes such as BHD syndrome can develop multiple benign (non-cancerous) skin tumours. These are usually on the face. In BHD, these skin bumps are known as fibrofolliculomas and trichodiscomas. These skin bumps can act as important signs that an underlying genetic condition may be present.

Researchers wanted to know whether the location of these tumours on people’s faces could help clinicians tell BHD apart from CCS in a clinical diagnosis. Until now, this pattern had not been investigated.

What the researchers did

The study looked at facial photographs from patients whose diagnoses had been confirmed through genetic testing. In total, researchers mapped:

•             1,302 facial tumors in 17 people with BHD

•             1,046 facial tumors in 13 people with CCS

By looking at where tumours appeared on the face, the team identified clear differences between the two conditions

What did the researchers find?

The researchers found that skin tumours linked to BHD most often develop on the lateral cheeks and mid-cheek area of the face. CCS tumours typically form in a central “hourglass” pattern running from between the eyebrows down toward the upper lip.

This difference may sound small, but for clinicians diagnosing the two conditions it could become a useful diagnostic clue.

Tumours may increase with age in BHD

Another important finding was that tumour numbers in people with BHD tended to rise over time. The study estimated that each additional year of age was associated with about a 5% increase in tumours.

Understanding how BHD skin bumps progress helps clinicians counsel patients. It also shows the importance of ongoing dermatology review for BHD patients.

 Why early diagnosis matters

Recognising patterns linked to genetic syndromes has a direct impact on patient care. Early diagnosis supports early surveillance for related cancers. It also allows families to access appropriate genetic guidance.

The study involved a relatively small number of participants. However, the findings provide meaningful insight for clinicians working with patients with multiple facial tumours. The small number of patients used reflects the rarity of both conditions. Further study with larger sample sizes would be helpful to understand this finding in a wider population.

What does this mean for the BHD community?

Research like this strengthens the clinical understanding of BHD. It moves the field closer to faster and more accurate diagnosis. For patients, can mean:

•             Clearer care pathways

•             Better health monitoring

•             Greater confidence in diagnosis

It also highlights how continued research into rare conditions directly supports better patient outcomes.

You can read the original research here:

Fostier W, Karacki K, Kong HH, Cowen EW, Linehan WM, Rajan N, Facial tumor mapping distinguishes Birt-Hogg-Dubé syndrome from CYLD cutaneous syndrome, Journal of the American Academy of Dermatology (2026), doi: https://doi.org/10.1016/j.jaad.2026.01.054