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

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

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.

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