Dermatológia pre prax 3/2018
Hereditárne ichtyózy – nová klasifikácia a pokroky v diagnostike a liečbe
Hereditary ichthyoses – new classification and advances in diagnostics and therapy
Inherited ichthyoses are a group of genetic disorders characterized by generalized skin scaling and hyperkeratosis, and often associated with inflammation. These manifestations are due to mutations in one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis and mostly involved in skin barrier formation. Over the recent years much progress has been made defining the molecular causes of ichthyoses. In 2009 an international consensus for the classification of inherited ichthyosis has been achieved that should be useful for all clinicians. A correct diagnosis of ichthyosis is essential for genetic counseling, prognosis and therapeutic options. Next-generation sequencing technologies have become powerful tools for the diagnosis of inherited ichthyoses.
Keywords: ichthyosis, classification, diagnosis, treatment
