9th June 2025

Tuberous sclerosis

Tuberous sclerosis is a rare multi-system autosomal dominant condition. Hamartomatous lesions characterise this condition. Whilst epilepsy (70%) and learning difficulties (50%) are common associations, the dermatological features are key in forming a diagnosis:

Dermatological features

• Hypomelanotic macules ≥ 3 at least 5 mm in size (seen in 90%) 
• Angiofibromas ≥ 3 (seen in 75%)
• Ungual fibromas ≥ 2 (seen in 20-80%)
• Shagreen patch (seen in ~50%)

Management

There is no cure for tuberous sclerosis, however, there are some treatments available for the dermatological manifestations of the condition. Sun protection should be advised, laser therapy may be useful for some patients, and mTOR inhibitors have been demonstrated to be effective in helping manage certain tuberous sclerosis variants.

Image Source: Wikimedia Commons (2007). Tuberous Sclerosis, Licensed under a creative commons licence. Available for free at: https://commons.wikimedia.org/w/index.php?search=tuberous+sclerosis+&title=Special%3AMediaSearch&go=Go&type=image (Accessed 23 May 2025).