Birt-Hogg-Dubé Syndrome: Answering Questions Raised by a Case Report Published in 1962

In 1962, J.J. Collins from the United States Naval Medical Research Laboratory published an unusual case of air embolism precipitated by decompression in The New England Journal of Medicine [1962;266:595-598]. The case was unusual because it was the first where multiple pulmonary cysts were discovered after a successful recompression treatment. Although various hypotheses were put forward by the author, it was thought that the diver might have had ‘subclinical cysts’ already present because of some disease phenomenon, which then became overinflated during decompression. Nearly 50 years have passed since these questions were raised. Interestingly, now the disease process is trying to unveil itself through various other clues. We present the case of the same diver who later developed a series of other medical problems, along with more than 5 admissions for spontaneous pneumothoraces, all falling into the constellation represented by the Birt-Hogg-Dubé syndrome. Birt-Hogg-Dubé syndrome is an autosomal dominant condition clinically characterized by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. It was first described in 1977 by Birt, Hogg and Dubé in a family with ‘hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons’. Spontaneous pneumothorax can be the first manifestation of this hereditary condition, and prevention in patients diagnosed with the syndrome is aimed at early diagnosis and treatment of the renal cell carcinoma. Physicians need to have a high index of suspicion when they see patients with the constellation of findings of this underdiagnosed syndrome, especially in patients with unexplained spontaneous pneumothoraces.