Interstitial Lung Disease

Question 1

You are asked for advice by a Registrar. They saw a patient in your clinic due to breathlessness and organised a CT scan of the chest. The report notes that there are multiple thin walled cysts of varying sizes with a lower zone predominance. The Registrar wonders whether this could be Birt-Hogg Dubé syndrome?

Which ONE of the following is a feature of Birt–Hogg–Dubé syndrome?
A. Chylothorax
B. Digital clubbing
C. Fibrofolliculomas
D. Granuloma annulare
E. ​Raynaud’s syndrome

Answer 1

C. Fibrofolliculomas

Birt-Hogg-Dubé syndrome is a rare autosomal dominant disorder due to mutations in the FLCN gene. Men and women are equally affected. Skin features include non-malignant hamartomas of the hair follicle called fibrofolliculomas. Pulmonary features of BHD syndrome are benign cysts which are bilateral with a lower zone predominant, and recurrent pneumothorax. People with this disorder are at risk for developing renal cancer, typically chromophobe oncocytomas and/or chromophobe carcinomas.