The literature data base has been updated with two papers:
Fabre et al. performed a restrospective analysis of CT scans and tissue taken during lung resection from a cohort of 5 confirmed BHD patients and 5 patients with recurrent pneumothorax caused by smoking, matched for sex, age at the time of surgery, and laterality of the tissue resection. The authors find that there is a distinct difference between the histological characteristics of BHD and spontaneous pneumothorax patients. In particular, BHD patients generally had numerous (more than 20) punch-out type cysts with no inflammation, showing a basal predominance. The control cohort had fewer cysts showing apical predominance. The control cohort also had a greater prevalence of smoking-related changes such as fibroelastotic scars, respitory bronchiolitis and emphysema, which BHD patients generally did not. However, one BHD patient, who was a current smoker, had pulmonary changes more similar to the control cohort. Thus, the authors encourage clinicians to consider a diagnosis of BHD in non-smoking patients with lung cysts predominantly located in the lower lobes of the lungs.
Kunogi Okura et al. describe the case of a 73 year old woman who presented in clinic with a left sided pneumothorax, found during a health check up. The pneumothorax had started to heal spontaneously by the time it was discovered, so the patient did not require treatment. The patient was a never smoker, with no medical history of pneumothorax. CT revealed the presence of multiple bilateral cysts in the lower lobes of the lung. Further examination revealed multiple facil papules which developed during the patient’s 30s, and a positive family history for pneumothorax and skin lesions. Ultrasound scans found no kidney cysts or tumours. Genetic testing confirmed a diagnosis of BHD. This paper is available to download in the BHD Article Library: Clinical Research.
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