This condition occurs due to an air leak in the lung, causing sudden lung deflation and breathlessness. The large-scale study, involving over 550,000 participants, identified a variant in the FLCN ...

One in 3,000 people may carry a faulty gene linked to Birt-Hogg-Dube syndrome, ... The gene, FLCN, is associated with symptoms such as benign skin tumors, lung cysts, ...

The findings revealed that between one in 2,710 and one in 4,190 individuals possess the FLCN variant that leads to Birt-Hogg-Dubé syndrome. Understanding Pneumothorax. Pneumothorax, or punctured lung ...

Researchers identified a specific variant in the FLCN gene that predisposes carriers to Birt-Hogg-Dube (BHD) syndrome—a rare inherited disorder associated with benign skin tumours, lung cysts, ... the ...

But curiously, whereas patients with a diagnosis of Birt-Hogg-Dubé syndrome have a lifetime risk of punctured lung of 37%, in the wider cohort of carriers of the genetic mutation this was lower at 28% ...

New estimates put one in 3,000 people at risk of a defective gene that increases their risk of a punctured lung. The gene, FLCN, is linked to a condition called Birt-Hogg-Dubé syndrome, which causes ...

The gene in question, FLCN, is linked to a condition known as Birt-Hogg-Dubé syndrome, symptoms of which include benign skin tumours, lung cysts, and an increased risk of kidney cancer.

The gene in question, FLCN, is linked to a condition known as Birt-Hogg-Dubé syndrome, symptoms of which include benign skin tumours, lung cysts, and an increased risk of kidney cancer.

Yngvadottir, B et al. Inherited predisposition to pneumothorax: Estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts. Thorax; 8 April 2025; DOI: 10.1136/thorax ...

If an individual experiences a punctured lung and doesn’t fit the common characteristics – for example, if they are in their forties – doctors will look for tell-tale cysts in the lower lungs, visible ...