Pulmonary hypertension and von Recklinghausen's disease: association and therapeutic difficulties.

The neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a genetic disorder. The café-au-lait spots and neurofibromas are the most common manifestations. Respiratory symptoms are rare in this disease, described as neurofibromas, infiltrative lesions, cysts, bubbles or emphysema. Pulmonary hypertension is rarely reported. It is due to the plexiform lesions in pulmonary arterioles or to parenchymal lung lesions reducing the vascular bed. We report a case of idiopathic precapillary pulmonary hypertension in a young patient with Von Recklinghausen's disease.