The BHD literature database has been updated with one case study:
Prichett et al. (2014) describe the case of a 53 year old Somalian man who presented in clinic with multiple asymptomatic skin lesions. The patient reported no medical or family history of kidney cancer, spontaneous pneumothorax, or pulmonary disease. Histopathology revealed the skin lesions to be fibrofolliculomas and trichodiscomas, and genetic testing confirmed a diagnosis of Birt-Hogg-Dubé syndrome. The patient was treated with shave removal of particularly disfiguring lesions and is currently undergoing assessment for renal and pulmonary symptoms.
To find out more, the latest version of the database is available to download here.