Tuberous Sclerosis

Posted by e-Medical PPT
Tuberous sclerosis is a rare, multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.The physical manifestations of tuberous sclerosis are due to the formation of hamartia  (malformed tissue such as the cortical tubers), hamartomas  (benign growths such as facial angiofibroma and subependymal nodules) and, very rarely, cancerous hamartoblastomas. The effect of these on the brain leads to neurological symptoms such as seizures, developmental delay and behavioral problems.Between 60 and 80% of tuberous sclerosis patients have benign tumors (once thought hamartomatous, but now considered true neoplasms) of the kidneys called angiomyolipomas (AML) frequently causing hematuria. Rhabdomyomas  are benign tumors of striated muscle. A cardiac rhabdomyoma can be discovered using echocardiography  in approximately 50% of people with tuberous sclerosis.
The most common skin abnormalities include:
    * Facial angiofibromas ("adenoma sebaceum"): A rash of reddish spots or bumps, which appear on the nose and cheeks in a butterfly distribution.
    * Periungual fibromas: Also known as Koenen's tumors, these are small fleshy tumors that grow around and under the toenails or fingernails.
    * Hypomelanic macules ("ash leaf spots"): White or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. These are usually the only visible sign of tuberous sclerosis at birth.
    * Shagreen patches: Areas of thick leathery skin that are dimpled like an orange peel, usually found on the lower back or nape of the neck.

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