Causes

Inherited ichthyosis is caused by faulty copies of genes, which are passed on from one generation to the next. Each type of ichthyosis is due to a different genetic mutation and the pattern of inheritance varies. Therefore expert genetic advice will be needed by families with affected children.

Research has led to the discovery of a particular mutation of the gene which controls a skin protein called keratin in one type, bullous ichthyosis. Other types of ichthyosis have been shown to be related to abnormalities in the lipid or fat chemicals in the skin (such as X-linked recessive ichthyosis, Refsum’s disease and Sj√∂gren-Larsson syndrome. No doubt further advances will be made and the hope is that it will be possible to improve treatment and prevent the occurrence of the severe forms of ichthyosis.

Inheritance of Ichthyosis