Tuberous sclerosis is the most common neurocutaneous syndrome after neurofibromatosis.
Dermatologic manifestations may be the only clues the family physician has to the diagnosis of the disorder, which is also marked by childhood seizures and mental retardation. Associated cardiac, retinal, renal and pulmonary pathology can increase morbidity and mortality. Genetic counseling is helpful but has limited use because of the variation in genetic expression and the frequency of new gene mutations that cause this disorder. With recent advances in genetic research and imaging modalities, more mysteries about this fascinating disorder have been solved. Tuberous sclerosis is an autosomal dominant disorder with almost complete penetrance but a wide range of clinical severity.