Genomic Study of Cutis Tricolor

University Hospital Center (CHU)

Status

Enrolling

Conditions

Pigmentary; Dermatosis

Treatments

Genetic: High troughput sequencing of human's exome

Biological: Blood sample

Biological: Cutaneous biopsy

Study type

Interventional

Funder types

Other

Industry

Identifiers

NCT06073171

2023-A00313-42 (Other Identifier)

RECHMPL22_0229

Details and patient eligibility

About

It's a study on Syndromic or Isolated Cutis Tricolor and had as main goal to identify the associated gene to the disease thanks to genetic analysis on minors patients and their parents reach by cutis Tricolor or not.

Full description

Cutis Tricolor (CT) is a rare cutaneous anomaly defined by pigmentary disorders associating large hyper- and hypopigmented macules of immediate proximity, selectively affecting the trunk. CT can be isolated, sporadic or integrated as a complex syndromic form such as Ruggieri-Happle syndrome (RHS) or various forms of pigmentovascular phacomatosis. A recent analysis of one case of RHS followed by CHU of Montpellier by whole exome sequencing allows the identification of a frameshift pathogen variant (heterozygous state) of a candidate gene.

The main objective is to confirm the association of the candidate gene with syndromic CT (SCT, Ruggierri-Happle syndrome) and non syndromic CT, from a genetic molecular blood and biopsy analysis of patients reach by CT and their parents presenting the disease or not. Furthermore, other objectives are to identify others associated candidates genes and to know better cutaneous pigmentary troubles factors, neurologics and eye abnormalities by identifying the differents cellulars pathways particularly the inflammatory pathway in the pathology of SCT.

First of all, it will have a pre-inclusion visit where Dr WILLEMS. M (Clinical Genetic Department - CHU Montpellier, France) and Pr BESSIS. D (Dermatology Department - CHU Montpellier, France) will explain the study's progress. Then, during the inclusion visit, families will sign inform consent for inclusion in the study. The same day, datas will be collected on demographic, clinical datas, including (i) a description of cutaneous, morphologic and extra-cutaneous anomalies and (ii) a cutaneous biopsy and (iii) a blood test will be done.

The genetics exams results will be return to patients during an usual follow-up visit, 12 months after their inclusion in the study.

Enrollment

10 estimated patients

Sex

All

Ages

4 to 60 years old

Volunteers

No Healthy Volunteers

Inclusion criteria

Patients with Cutis Tricolor in trio (an affected parent, an unaffected parent) or in duo (one of the two affected parents)
Age : from 4 to 60 years

Exclusion criteria

Refusal to sign the informed consent
Patient who doesn't have a social security scheme or beneficiary of such a scheme
Pregnant or breastfeeding women
Patient whith a legal protection measure (guardianship, curatorship)
Patient under legal protection