Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing

University Hospital, Strasbourg, France25 enrolled

Overview

The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases. The secondary purpose will be to study the genotype-phenotype correlation in order to re-evaluate the classification of these disorders. This work could help in the understanding of the physiopathology of very rare skin disorders.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Familial Lipomatosis Very Rare Dermatologic Diseases

Eligibility

Sex: ALLMin age: 2 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * patients affected by familial lipomatosis * patients with rare dermatologic disease without molecular diagnosis * written informed consent is obtained from the patient and his/her family Exclusion Criteria: * the patient does not want to participate to the protocol * the patient is already included in another study using next generation sequencing technologies

Locations (2)

Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg

Strasbourg, France

RECRUITING

Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg

Strasbourg, France

RECRUITING

Outcomes

Primary Outcomes

Number of patients with a deleterious mutation

Validation of the exome sequencing results will be done by sanger sequencing

Time frame: 6 months

Central Contacts

Salima EL CHEHADEH, MD

CONTACT

33.3.88.12.81.20 salima.elchehadeh@chru-strasbourg.fr

Dan LIPSKER, MD

CONTACT

33.3.88.11.61.79 dan.lipsker@chru-strasbourg.fr

Data from ClinicalTrials.gov

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