Tuberous Sclerosis

Excerpt

Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple systems. It is inherited in an autosomal dominant fashion and is characterized by an increased predisposition to hamartoma formation. It results from mutations in the genes TSC1 and TSC2 and is known for causing neurological disorders including epilepsy and intellectual disability.

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 a wide array of clinical manifestations.

Some manifestations may be present prenatally, such as cardiac rhabdomyomas or cortical tubers. While other signs, including osseous, renal, or pulmonary lesions are commonly diagnosed in adulthood. The presentation of the disease will vary depending on the developmental stage of the individual. 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. 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, orientation and counseling play a vital role.