Tuberous sclerosis is a dominantly inherited syndrome, with onset in the first decade of life, characterized pathologically by the presence of hamartomas in multiple organ systems. Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. The clinical features of epilepsy, learning difficulties, and skin signs (white spots, butterfly-like yellow-red nodular paranasal rash on cheeks and chin) are well known, but recent epidemiological and genetic research has begun to reveal the complexity of the condition. Tuberous sclerosis is a systemic disorder in which hamartomas occur in multiple organ systems, particularly the brain, skin, heart, lungs, and kidneys.
A genetic condition characterized by nodular tumors in the brain and other organs. Tuberous sclerosis (TS) develops before birth and continues to progress over the lifetime of the affected individual. Although TS can affect all systems of the body, the abnormal growths most commonly occur in the brain, heart, skin, and kidney. Other organs that can be affected include the eye, bone, lung, and liver. TS leads to a variety of problems, including seizures, skin lesions, tumors, and mental retardation.
A congenital disorder in which the brain, skin, and other organs are studded with small plaques or tumors. Symptoms include epilepsy and mental retardation.
Tuberous Sclerosis, or epiloia: a rare inherited disease transmitted as an autosomal dominant trait. Epilepsy in childhood is often the first manifestation, although ovoid hypopigmented macules (‘ash leaf patches’) in the skin may be detected in infants without symptoms. Later an acne-like eruption of the face (adenoma sebaceum), fibrous outgrowths around the nails and fibrous plaques on the lower back (shagreen patch) can all occur. Half of those affected have learning difficulties and behaviour problems, and autistic symptoms may occur.
An autosomal dominant disorder in which multiple tumors appear in the skin, brain, heart, and kidneys of affected children. Infants born with this disease may have facial angiofibromas, astrocytomas of the central nervous system, hamartomas of the retina, and other lesions, producing hydrocephalus, mental retardation, autism, and seizures.
An uncommon hereditary disorder characterized by the development of noncancerous tumors in the brain as well as in critical organs such as the kidneys, heart, eyes, lungs, and skin. This condition is believed to increase the risk of developing chordoma.
Tuberous sclerosis is a genetic condition impacting both the skin and nervous system. Symptoms can include facial skin issues resembling acne, seizures, and cognitive challenges. Additionally, benign tumors may form in the brain, kidneys, eyes, and heart. While there is no cure, treatment focuses on symptom management. In severe instances, the condition can be life-threatening, potentially leading to death before the age of 30. Families affected by this disorder are advised to seek genetic counseling.
A disorder marked by numerous skin tumors on the cheeks and face, coupled with intellectual challenges and epileptic seizures. Also known as adenoma sebaceum or epiloia.
A hereditary condition where tumors develop on the brain’s surface, often leading to cognitive decline and epileptic seizures. This disease may also include innate tumors of the eye, kidney, and heart muscle.