Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

• Conditions: Tuberous Sclerosis Complex

• Registration Number: NCT04112537
• Lead Sponsor: University Hospital, Montpellier

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2019-03-01
• Study First Submitted: 2019-09-30
• Study First Submitted QC: 2019-09-30
• Study First Posted: 2019-10-02
• Primary Completion: 2019-12-30
• Status Verified: 2020-03
• Last Update Submitted: 2020-03-09
• Last Update Posted: 2020-03-10
• Study Completion: 2020-12-30

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 90

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Phenotype	1 day	Phenotype : Dermatological signs observed

Secondary Outcome Measures

Name	Time	Method
Genotype	1day	Genotype : TSC1, TSC2, mosaicism

Trial Locations

Locations (1)

Uh Montpellier; 🇫🇷 Montpellier, France