Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis

Study of In Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis

The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.

Inclusion Criteria:

• Aged 15-80 years old
• Having an ARCI or EI, confirmed by a molecular diagnosis of a mutation in at least one of the following genes: TGM1, ALOX12B, NIPAL4, ABCA12, keratin 1 and keratin 10)
• Having stopped all topical treatments in at least 1% of the total body surface (equivalent to one palm of the hand of the patient), at least 8 days before the skin biopsy (which will be performed on this untreated area).
• Patients having a molecular diagnostic of genetic ichtyosis
• No contraindication to skin biopsy
• Health insurance coverage
• Signature of written consent

Exclusion Criteria:

• Aged less than 15 of over 80 years old
• Ichtyosis without a molecular confirmed diagnosis or with a different diagnosis
• History, in the 8 previous days, of any topical treatment on the area intended for the skin biopsy.
• No health insurance coverage
• Pregnant or breastfeeding woman
• Patient under guardianship or curatorship
• Patient under State Medical Assistance (AME)