Ichthyosis

This is a disease during which a person’s skin becomes thickened and scaly. It is caused by a disrupted keratinization of the outer layer of the epidermis, as the production of the enzyme arylsulfatase is reduced due to mutations in the X chromosome. The autosomal dominant form is caused by mutations in the keratin 1 or keratin 10 genes. The autosomal recessive form is caused by a deficiency of transglutaminase K.

Source | Glossary of Most Commonly Used Biomedical Terms and Concepts | Lithuanian University of Health Sciences | Academician Professor Antanas Praškevičius, Professor Laima Ivanovienė