Association between Birt-Hogg-Dubé syndrome and Pulmonary Hypertension: a case series

Extract Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant inherited disorder with an estimated prevalence of approximately 2 cases per million [1]. It features benign cutaneous papules (fibrofolliculomas, trichodiscomas, and acrochordons), lung cysts, spontaneous pneumothorax, and an increased risk of kidney tumors. Germline pathogenic mutations in FLCN, a tumor suppressor gene encoding folliculin, were identified as causative for BHD syndrome [2].