A 46 year old lady presented to her general practitioner with recurrent urinary tract infections. She was subsequently diagnosed a left sided exophytic renal tumour. Subsequent nephrectomy revealed oncocytic tumour which raised clinical concern for the hereditary syndrome of Birt Hogg Dube Syndrome (BHDS). The only family history note cousin who has cysts. Tumour genomic testing somatic mutatio...

Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene.

We report a case of spontaneous recurrent pneumothorax in a 32-year-old male with a family history of Birt–Hogg–Dube syndrome. Specific aspects of the surgical treatment for a pneumothorax within this particular setting are discussed as well as the potential underdiagnosis of this complex genodermatosis. The literature linking the syndrome to spontaneous pneumothorax is reviewed.

NITRIC OXIDE (NO, nitrogen monoxide) affects a multitude of physiological systems. It can react with metal centers, oxygen, and superoxide in tissues. The report from Zhang and Hogg, one of the current articles in focus (Ref. 13, see p. L467 in this issue), confirms that one cellular target of oxidized form(s) of NO is thiol groups (RSH) (13). Nitrosothiols (RSNO) are formed from peptide or pro...