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Medicine (MD/DO)
Neurocutaneous Disorders
Tuberous Sclerosis

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Tuberous Sclerosis

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Tuberous Sclerosis

Tube Skull-roses
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 intellectual disability. 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.
Autosomal Dominant

This disease is inherited in an autosomal dominant fashion.

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

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 the involvement of the brain. Subependymal refers to the region in the brain below the ependyma that 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.


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.

Intellectual Disability (Mental Retardation)
Tar Covered Book

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

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

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

Ash-leaf Spots

Ash-leaf spots, also called hypomelanic macules, are white or lighter patches of skin on any part of the body caused by a 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, 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 occur most often 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 due to 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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