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Tuberous Sclerosis

Tube Skull-roses
Picmonic
Tuberous sclerosis is a rare neurocutaneous autosomal dominant disorder characterized by nonmalignant tumors of the brain and other organs including the kidneys, heart, eyes and skin. It is caused by a mutation in tumor growth suppressor proteins, which are agents that regulate cell proliferation and differentiation. Defects in these tumor growth suppressor proteins lead to benign growths, called hamartomas, in the skin and CNS. In the brain, subependymal giant cell astrocytomas occur in one out of ten individuals and can block the flow of CSF, leading to increased intracranial pressure and hydrocephalus. The effect of the hamartomas in the brain can lead to seizures and mental retardation. Multiple skin manifestations are also common including adenoma sebaceum on the face, shagreen patches on the back, and ash-leaf spots throughout the body. The heart and kidney are also commonly affected with the presence of cardiac rhabdomyomas and renal angiomyolipomas. 
11 KEY FACTS
CHARACTERISTICS
Autosomal Dominant
Domino

This disease is inherited in an autosomal dominant fashion.

SIGNS AND SYMPTOMS
Hamartomas in CNS and Skin
Hammerhead-shark with CNS-brain showing and stretching Skin

Hamartomas are focal malformations in tissue that resemble a neoplasm but are benign and grow at the same rate as surrounding tissues.

Phakoma
Fat-comma

Phakoma, also known as retinal phakoma or astrocytic hamartoma, is a gray or yellow plaque, single or multiple, which may be found in the retina, or in or near the optic disc or at a distance from it. It is most often caused by tuberous sclerosis.

Intellectual Disability (Mental Retardation)
Read-tarred-book

A large percentage of people with tuberous sclerosis have learning difficulties ranging from mild to severe mental retardation, usually as a result of growths of the brain. Lower IQ is associated with more brain involvement.

Seizures
Caesar

Seizures, which are defined as transient episodes of abnormal, excessive neuronal activity, are common in individuals with tuberous sclerosis due to growths of the brain, and are more often seen in children with this disease.

Subependymal Giant Cell Astrocytoma
Sub-panda with Giant Shell Astronaut

These tumors occur in about one out of ten individuals with tuberous sclerosis. This brain tumor is noncancerous but can be very problematic due to involvement of the brain. Subependymal refers to the region in the brain below the ependyma which lines the ventricles. Giant cells refer to large abnormal cells found on microscopic examination and astrocytoma refers to the most prevalent cell type. These tumors can grow and block the flow of CSF leading to increased pressure and hydrocephalus.

Adenoma Sebaceum
Add (+) gnome spaceship

Adenoma sebaceum, also called facial angiofibromas, are reddish spots or bumps that appear in a butterfly distribution on the nose and cheeks and consist of blood vessels and fibrous tissues.

Shagreen Patch
Shaggy-green-tree

These are areas of leathery thick skin usually found on the lower back or neck. The skin can dimple like an orange peel and is a common finding in tuberous sclerosis.

Ash-leaf Spots
Ash-leaves

Ash-leaf spots, also called hypomelanic macules, are white or lighter patches of skin on any part of the body caused by deficiency of melanin. Ash-leaf spots are often the only visible sign of this rare disease at birth.

Renal Angiomyolipoma
Kidney-angel with big Muscles and Lips

Between 60 percent to 80 percent of individuals with tuberous sclerosis have angiomyolipomas on their kidneys. Angiomyolipomas are tumors composed of vascular tissue, smooth muscle, and fat. Although the growths are benign in nature, the tumors can become relatively large and be a risk for catastrophic hemorrhage.

Cardiac Rhabdomyoma
Heart of Rabbi

Rhabdomyomas are benign tumors of striated muscle that are common in tuberous sclerosis. Problems due to this growth most often occur in utero or within the child's first year of life. The clinical presentation may include obstruction, arrhythmias, or murmurs. Most often, patients with cardiac rhabdomyomas as a result of tuberous sclerosis will display a mitral regurgitation murmur on physical exam. The development of this rare tumor can be a strong indicator of tuberous sclerosis in pediatric patients.

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