Verhaert 2011, a case report, has been added to the BHD Literature Database. A 33-year-old man experienced bilateral spontaneous pneumothorax after presenting with dyspnoea and chest pain. He was found to have a family history of pneumothorax. While lung cysts were identified on radiological examination, no skins lesions were present. Genetic testing confirmed a diagnosis of BHD syndrome. Verhaert stressed the importance of considering BHD syndrome as a diagnosis for cases of familial spontaneous pneumothorax.
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Verhaert 2011 is freely available to download in the BHD Article Library: Clinical section.