Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing (DERMA-SEQ)

University Hospital, Strasbourg, France

Status: Unknown

Conditions: Very Rare Dermatologic Diseases; Familial Lipomatosis

Study type: Observational

Funder types: Other

Identifiers

NCT02509650

6024 (Other Identifier)

Details and patient eligibility

About

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.

Enrollment: 25 estimated patients

Sex: All

Ages: 2+ years old

Volunteers: Accepts Healthy Volunteers

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