Autosomal recessive congenital ichthyosis.
Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has illustrated the power of genetic strategies for the investigation of newly recognized metabolic pathways and for the mechanisms of barrier function in normal skin. Parallel biochemical studies have elucidated important functional aspects of these findings (Brash et al., 2007), and it is now time to determine how the genetic and biochemical features correlate with the clinical phenotypes of patients. The story of ARCI provides an instructive example of synergy among geneticists, biochemists, and clinicians.
Fischer
Judith
J
CEA, Institut de Génomique, Centre National de Génotypage, Dermatologic Diseases, Evry, France. fischer@cng.fr
D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis* / Q000235:genetics*; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D012867:Skin / Q000473:pathology