Pulmonary Manifestations and Management of Proteus Syndrome

• Main Authors: Chia-Ying Li, Yih-Leong Chang, Wei-Chou Chen, Yung-Chie Lee
• Format: Article
• Language: English
• Published: Elsevier 2010-05-01
• Series: Journal of the Formosan Medical Association
• Subjects: bullous lesion; mutation; pneumonectomy; pneumothorax; Proteus syndrome
• Online Access: http://www.sciencedirect.com/science/article/pii/S0929664610600691

Proteus syndrome is a very rare, sporadic and congenital condition that is characterized by postnatal mosaic overgrowth. This disorder is thought to be caused by a somatic gene mutation, but the exact etiology is unknown. Commonly involved tissues include connective tissue, bone, skin and the central nervous system. Another less common symptom involves pulmonary emphysematous changes. This report documents a 25-year-old man with Proteus syndrome who presented with progressive exertional dyspnea and asymmetric overgrowth of his extremities. He underwent left pneumonectomy and his postoperative course was uneventful. Lung tissue showed emphysematous changes with multiple bulla formation and scattered calcification. We also review recent literature related to pulmonary manifestations and management of Proteus syndrome.