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 neurofibromatosis.

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

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.

Neurofibromatosis is a genetic condition that causes nerve tumors called neuromas to develop throughout the nervous system. These tumors are

benign, but they can cause neurological and structural problems.

Neurofibromatosis type 1 is more common than neurofibromatosis type 2.

This content mainly focuses on type 1.

Let's talk about the neurofibromatosis type 1 gene. The type 1 gene is found on chromosome 17.

It codes for a protein called neurofibromin, which is a tumor suppressor protein.

This means it's a protein that works to suppress tumours.

When there's a mutation, the protein doesn't work properly and tumors develop.

Mutations in this gene are inherited in an autosomal dominant pattern.

Let's go through the features of neurofibromatosis type 1.

The diagnostic criteria for neurofibromatosis type 1. The diagnostic criteria for neurofibromatosis type 1 are based on the features

and these can be remembered with the crabbing pneumonic.

C is for cafe-o-lay spots or milky coffee spots

and these need to be more than 15 millimeters in diameter in adults to be

significant.

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