BHD causes pneumothoraces during childhood in rare cases
Birt-Hogg-Dubé Syndrome is caused by inactivating mutations in the FLCN gene, characterised by skin lesions on the face and upper body; lung cysts and predisposition to pneumothorax; and kidney cancer. Although symptoms typically appear in the third and fourth decade of life, Johannesma et al. (2014) suggest that pneumothorax in patients under the age of … Read more