Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

University Hospital Center (CHU)

Status: Unknown

Conditions: Tuberous Sclerosis Complex

Study type: Observational

Funder types: Other

Identifiers

NCT04112537

RECHMPL19_0460

Details and patient eligibility

About

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.

Enrollment: 90 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Diagnosis of Tuberous Sclerosis Complex established of confirmed by a geneticin, with a genetic study done or processing, patients accepting to be exanimated

Exclusion criteria

• None