[Tuberous sclerosis associated with pulmonary lymphangioleiomyomatosis]

Lymphangioleiomyomatosis (LAM) is a rare disease of women of childbearing age in which there is hyperplasia of atypical smooth muscle along lymphatics in the lung, thorax, and abdomen. Since Lautenbacher's first description in 1918, less than 100 cases of Bourneville's tuberous sclerosis (BTS) with involvement of the lungs have been reported. Their clinical, radiologic and pathologic manifestations are so strikingly similar to those of pulmonary lymphangioleiomyomatosis (PLM) that some authors have considered PLM to be a form fruste of BTS. We present a case of PLM with clinical pictures of dermatologic stigmata and kidney angiomyolipoma of tuberous sclerosis but free of neurologic symptoms. After the development of a recurring spontaneous pneumothorax, she had a downhill course and progressive pulmonary functional defect.