Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy


Address correspondence and reprint requests to: Sherri Bale, PhD, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, or email:


Knowledge of the molecular basis of many inherited diseases has grown exponentially during the past decade. Inherited skin diseases, including the ichthyoses and related conditions, benefited from that explosion of information, much of which has relevance for the clinical setting. In this section, the authors review the genes now known to be involved in ichthyosis, the methods for detecting mutations in those genes in the clinical diagnostic laboratory, options for using that information for diagnosis and pregnancy/family planning decisions, and current and future therapies based on the knowledge of the molecular basis of the ichthyosis.