title: Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.
abstract: 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.
authors: GeneDx, Gaithersburg, MD 20877, USA.
authors: Gabriele
authors: G
authors: Richard
authors: Keith
authors: K
authors: Choate
authors: Leonard
authors: L
authors: Milstone
authors: Sherri
authors: S
authors: Bale
mesh_terms: D005260:Female; D005820:Genetic Testing / Q000379:methods*; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000628:therapy*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*