Tuberous Sclerosis

Excerpt

Tuberous sclerosis complex (TSC) is a genetic disorder inherited in an autosomal dominant fashion and is characterized by an increased predisposition to hamartoma formation. TSC results from mutations in the genes TSC1 and TSC2 and is known for causing neurological disorders, including epilepsy and intellectual disability. Other organ systems involved include pulmonary, renal, dermatologic, and cardiac. TSC is usually diagnosed in childhood or infancy, and the affected individuals may present with developmental delay, skin manifestations, or seizures. However, it may also be diagnosed earlier or later based on various clinical manifestations.

Some manifestations, such as cardiac rhabdomyomas or cortical tubers, may be present prenatally. Other signs, including renal and pulmonary lesions, are commonly diagnosed in adulthood. The presentation of the disease will vary depending on the individual's developmental stage. While skin lesions are detected in 90% of patients of all ages, hypopigmented macules are usually found in early childhood. Ungual fibromas appear near puberty, and facial angiofibromas are more common in adolescence. This disease has a highly variable clinical course. The prognosis may be uncertain, and follow-up requires a comprehensive evaluation, often in specialized institutions. This disorder may be overwhelming for some patients and family members; thus, education and counseling play a vital role.