Tuberous Sclerosis in the Adult

Abstract

The signs and symptoms of tuberous sclerosis usually appear in infancy or early childhood with no orderly sequence of development.¹Seizures and mental deficiency may be apparent at the age of 1 or 2 years while adenoma sebaceum and other cutaneous lesions most commonly appear between the ages of 4 and 9. Sometimes patients may show a forme fruste of the disease in which some of the features are absent. The disease, which affects males more commonly than females, occurs in approximately 1:50,000 births.²About half give a family history of mental retardation, seizures, severe psychopathic or psychotic tendencies, or characteristic skin lesions.¹Inheritance appears to be on the basis of a rare autosomal dominant gene with incomplete penetrance.^3,4Occasionally, the gene may appear as a mutant. Formes frustes are thought to be due to an independent pair of modifying genes. Although 30% of patients are