What are Inherited Ichthyosis ?
Keratinization disorders refers to a large and heterogeneous group of disorders of cornification, the majority of which are genetically determined. Actually, the ichthyoses constitute the predominant portion of keratinisation disorders. The word « ichthyosis » derives from the Greek word « ichthys » which means fish. In most cases, the skin abnormalities appear since birth. The patients develop extensive, often generalized scaling of the skin, associated or not with redness of the skin. Other organs can be affected. The vast majority of ichthyosis are rare diseases due to mutations in one single gene (monogenic disorders). They are transmitted in an autosomal dominant, recessive or recessive X-linked manner.
The Ichthyosis Support Group proposes leaflets descibing the different types of ichtyoses and thier management as well as information for parents and children. To download these leaflets, click here..
Patient goups got together in the European Network for Ichthyosis, ENI. You will on their website, the links to their member associations.
Geneskin provides a list of specialised centers, clinical trials and patient associations.
Orphanet provides also a list of expert centres, diagnostic tests, patient organizations, research projects, clinical trials, registries, networks.
on rare skin diseases
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