Ontology highlight
ABSTRACT:
SUBMITTER: Bock K
PROVIDER: S-EPMC5775768 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Bock Kirse K Lohse Zuzana Z Madsen Poul Henning PH Hilberg Ole O
BMJ case reports 20180109
Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterised by benign cutaneous lesions, lung cysts, increased risk of spontaneous pneumothorax and renal cancer. It shows great heterogenous presentation within and between affected families. We report a case of a Danish female patient with recurrent pneumothoraces as the first symptom of BHDS. Over the years, she developed skin changes, and a family history of skin changes, pneumothoraces and renal cancer was di ...[more]