Interstitielle Lungenerkrankung mit pulmonaler Hypertension assoziiert mit Epidermolysis bullosa bei einem Säugling

Abstract Interstitial lung diseases, with or without pulmonary hypertension and epidermolysis bullosa are rare in infancy. Pathogenetic correlations between these diseases are not known and their coincidence has not been reported, yet. We report on a seven weeks old boy of consanguine parents with typical skin efflorescences of epidermolysis bullosa, tachydyspnoea and cyanosis. Echocardiography and cardiac catheterisation revealed pulmonary hypertension, which persisted under therapy with oxygen and nifedipin. Lung biopsy showed interstitial and peribronchiolar increased lymphocytes and lymphfollicels, a mild intraalveolar desquamation and a media hypertrophy of the arteries. A combined therapy of prednisone and nifedipine normalised the pulmonary hypertension and the oxygen saturation. The activity of the epidermolysis bullosa showed no correlation with the interstitial lung disease or with the therapy. A connection between both diseases is discussed.