Hello and welcome to the zero to finals podcast.

My name is Tom, and in this episode I'm going to be talking to you about tuberous sclerosis.

And you can find written notes on this topic at zero to finals.com slash tuberous sclerosis

or in the neurology section of the second edition of the

zero to finals medicine book. And you can find flashcards and questions to train your knowledge

on this content and help you remember the information for longer at members.0.0.com. So let's get

straight into it.

Tuberosclerosis is an autosomal dominant genetic condition that affects multiple systems.

The characteristic feature is the development of hamartomas, which are benign tissue growths.

Hamatomas cause problems based on the location of the lesion. They commonly affect the skin, brain, lungs, heart, kidneys and eyes.

Tuberousclerosis is caused by mutations in either the TSC1 gene on chromosome 9, which codes for

Hamerton, or the TSC2 gene on chromosome 16, which codes for tuberin.

Hammartin and tuberin interact with each other to control the size and growth of cells.

Abnormalities in one of these proteins leads to abnormal cell size and growth.

Let's talk about the features. The skin features of tuberous sclerosis include ash leaf spots, which are depigmented areas of skin,

shaped like an ash leaf, shagreen patches, which are thickened, dimpled, pigmented patches of skin,

angiophibromas, which are small skin-colored or pigmented papyles that occur over the nose

and the cheeks, Angul fibromas, which are circular painless lumps that grow slowly from

the nail bed and displace the nail,

Cafe Olae spots, which are light brown coffee and milk,

colored flat pigmented lesions on the skin,

and poliosis, which is an isolated patch of white hair on the head, eyebrows, eyelashes or beard.

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