Timeline of tuberous sclerosis

Timeline of Tuberous Sclerosis

Désiré-Magloire Bourneville

The timeline of tuberous sclerosis chronicles the key discoveries and developments in understanding this genetic disorder, which affects multiple organ systems and is characterized by the growth of benign tumors.

19th Century

• 1862: The first known description of tuberous sclerosis was made by E. von Recklinghausen, who noted the presence of "sclerotic" lesions in the brain.

• 1880: Désiré-Magloire Bourneville, a French neurologist, provided a detailed description of the disease, which he termed "sclérose tubéreuse des circonvolutions cérébrales". Bourneville's work laid the foundation for understanding the neurological aspects of the disorder.

Bourneville and Brissaud's illustration of tuberous sclerosis

• 1881: Félix Balzer described the skin lesions associated with tuberous sclerosis, known as "adenoma sebaceum" (now called facial angiofibromas).

Early 20th Century

• 1908: Heinrich Vogt identified the classic triad of symptoms: seizures, intellectual disability, and facial angiofibromas, which became known as "Vogt's triad".

• 1911:
  

  Illustration of tuberous sclerosis by Rayer

 E. Rayer published a comprehensive account of the disease, further elucidating its clinical manifestations.

• 1921: Jan van der Hoeve described retinal phakomas, a key ocular manifestation of tuberous sclerosis, contributing to the understanding of its systemic nature.

Retinal phakoma drawing by Jan van der Hoeve

Mid to Late 20th Century

• 1954:
  

  Stoddart's work on tuberous sclerosis

 E. Stoddart advanced the understanding of the genetic basis of tuberous sclerosis, suggesting an autosomal dominant inheritance pattern.

• 1970s: The development of computed tomography (CT) and magnetic resonance imaging (MRI) allowed for better visualization of brain lesions in patients with tuberous sclerosis.

• 1987: The Tuberous Sclerosis Alliance was founded, providing support and advocacy for individuals affected by the disorder.

21st Century

• 2000s: The identification of the TSC1 and TSC2 genes, which are responsible for the majority of cases of tuberous sclerosis, marked a significant advancement in genetic research.

• 2010s: The development of mTOR inhibitors, such as everolimus, provided new therapeutic options for managing the symptoms of tuberous sclerosis, particularly in reducing the size of renal angiomyolipomas and subependymal giant cell astrocytomas.

Related Pages

• Tuberous sclerosis
• Genetic disorders
• Neurology
• Dermatology