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A Rare Cause of Recurrent Spontaneous Pneumothorax

A 16-year-old girl was admitted for the first time to our department for acute, increasing left-sided chest pain and shortness of breath. Both physical and radiographic findings were compatible with pneumothorax (Figure 1), and thoracostomy tube drainage was performed as soon as the diagnosis was arrived at. Physical examination revealed hyperelastic and fragile skin, hypermobility of multiple joints, subluxation of the right temporomandibular joint, and ability to hyperextend and hyperabduct the fingers (Figure 2). The heart was tachycardic with a regular rhythm. Echocardiography was performed, and mitral valve prolapse was revealed. The period progressed uneventfully, and the thoracostomy tube drainage was removed after 3 days. The patient was discharged, but she was readmitted to our department 1 month later for progressively increasing chest pain. She denied any direct thoracic trauma. On physical examination, the vital signs were as follows: temperature 36°C, blood pressure 108/69 mm Hg, heart rate 84 beats/min, and room air oxygen saturation 94%. Laboratory values were as follows: white blood cell count = 8310/mm; hemoglobin = 11.8 g/dL; platelet count = 186 000/mm; C-reactive protein = 0.20 mg/dL. The chest X ray showed a left pneumothorax. After 20 days of discharge, the patient again showed the typical symptoms of pneumothorax. Video-assisted thoracoscopic surgery was performed, and the postoperative period progressed uneventfully. Her past medical history was remarkable for recurrent dislocations of the right coxo-femoral joint during sporting activities, and at 8 years of age, hip surgery was performed. At the age of 15 years, she was referred to a local hospital with chest pain, and spontaneous pneumothorax was identified. The clinical findings and the medical history were significant for Ehlers-Danlos syndrome (EDS). Indeed, a dermal biopsy was taken from the upper arm of the patient; a fibroblasts culture was done, and reduced synthesis of collagen type V was found, thus, confirming the diagnosis. At 2 years following surgery, the patient was free of respiratory symptoms.