Spontaneous pneumothorax associated with tuberous sclerosis.

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by adenoma sebaceum, mental retardation, and epilepsy. Pulmonary disease with spontaneous pneumothorax is a rare complication with this disease. We have recently seen two patients with this complication. A review of the literature reveals 17 other patients with spontaneous pneumothorax and tuberous sclerosis. Eight of these died of pneumothorax. Fifty-three percent of the patients, including all those who died, had normal intelligence. The pathological and roentgenographic findings of the disease are discussed. Recommendations for therapeutic management are given.