PROTEUS SYNDROME - EMPHASIS ON THE PULMONARY MANIFESTATIONS

Published articles on the radiologic aspects of Proteus syndrome are s parse. This report highlights the features of this disease with specif ic attention to the serious pulmonary manifestations that may occur at an early age. Two cases of Proteus syndrome and severe lung disease a re presented, with complete autopsy in one case and correlative surgic al pathologic data in the other. Multiple superficial and visceral vas cular abnormalities were present in both cases. Both patients develope d rapidly progressive diffuse cystic emphysematous pulmonary disease l eading to the death of one patient at age 18 years and a heart-lung tr ansplant in the other at age 8 1/2 years. Extensive gross pulmonary cy sts were evident pathologically with diffuse panlobar emphysema micros copically. Studies of collagen and cultured fibroblasts in one patient revealed no abnormality. The early presentation, rapid progression an d potentially lethal nature of lung involvement has not previously bee n emphasized.