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 follow along with written notes on this topic

at zero definals.com slash tuberous sclerosis or in the neurologurology section of the Zero Definals Medicine book.

So let's get straight into it.

Tuberousclerosis is a genetic condition that causes features in multiple systems.

And the characteristic feature is the development of hamatomas.

Hamatomas are benign neoplastic growths of the tissue that they

originate from. The hamatomas cause problems based on the location of the lesion and they

commonly affect the skin, the brain, the lungs, the heart, the kidneys and the eyes. Tuberosclerosis is caused by mutations in one of two genes.

Firstly, the TSC1 gene on chromosome 9, which codes for Hammerton,

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

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

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

Let's talk about the skin signs because this is often a spot diagnosis

in exams. Ash leaf spots are depigmented areas or hypopigmented areas of skin, shaped like an ash

leaf. Shagrin patches are thickened, dimpled, pigmented patches of skin.

Angiophimers are small skin-colored or pigmented papules that occur over the nose and the cheeks.

Sub-uncle fibromata are fibromas growing from the nail bed in the hands and the feet?

They're usually circular painless lumps that grow slowly and displace the nail or push the nail out of the right position.

Café-Ale spots are light brown coffee and milk coloured flat pigmented lesions of the skin.

Poliosis is an isolated patch of white hair on the head and milk colored flat pigmented lesions of the skin.

Polyosis is an isolated patch of white hair on the head or the eyebrows or the eyelashes or in the beard.

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