Tuberous Sclerosis Complex Clinical Trial
Official title:
Dermatologic Clinical Patterns Study of Tuberous Sclerosis Complex Patients Related With Their Somatic Mutation
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals.
It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1
(TSC1) or TSC2 causes a protein dysfunction, hamartin and tuberin respectively, leading to
mTOR signaling pathway activation, thus tumors rise on the skin but also brain, eyes,
kidneys, heart.
Thanks to the advent of sequencing techniques of the human genome, genes involved were found
twenty years ago. Most commonly, these are de novo private mutations and autosomal dominant
Mendelian transmission. About 15% of patients have a phenotype corresponding to the disease
but no mutation is found.
Although the initial clinical description was in 1880, publications regularly describe new
signs in Tuberous Sclerosis, especially for skin.
Cutaneous manifestations are important in the diagnostic criteria of the disease and often
even the first sign of appeal. However, no data is available on the relationship between
genotype and dermatological phenotype.
Therefore the investigator intend to review all cutaneous finding in Tuberous Sclerosis
patient and try to link with their mutation.
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