title: Recent advances in congenital ichthyoses.
abstract: OBJECTIVE
  In 2010, a new classification of the congenital ichthyoses was published. At the time, the causative genes were known in many but not all instances. The goal of this review is to provide an update on molecular and clinical findings in congenital ichthyosis and to revise evidence-based and emerging treatments.
  
  
  RESULTS
  Mutations in genes encoding for desmosomal components have recently been shown to cause three clinically overlapping entities: peeling skin disease; severe dermatitis, multiple allergies and metabolic wasting syndrome; and Netherton syndrome. Mutations in keratin 10 have been identified as the cause of ichthyosis with confetti, a rare form of ichthyosis characterized by severe erythroderma in which healthy spots gradually develop since childhood. There is no curative treatment for the congenital ichthyoses. A recent systematic review of randomized clinical trials of ichthyosis treatments revealed that research evidence of therapy is poor.
  
  
  CONCLUSIONS
  The expanding phenotype and genotype of the ichthyoses facilitates accurate clinical diagnosis and permits a deeper knowledge of the epidermal pathophysiology. Although curative treatment is yet to come, N-acetylcysteine has recently been added to the therapeutic armamentarium and topical enzyme replacement therapy has emerged as a promising alternative in TG1-deficient individuals.
authors.affiliation: aDepartment of Dermatology, Hospital Infantil del Niño Jesús bMolecular Medicine Unit, Department of Medicine, IBSAL and IBMCC, University Hospital of Salamanca and CSIC, University of Salamanca, Salamanca, Madrid, Spain.
authors.forename: Angela
authors.initials: A
authors.lastname: Hernández-Martín
authors.forename: Rogelio
authors.initials: R
authors.lastname: González-Sarmiento
mesh_terms: D000287:Administration, Topical; D003545:Cysteine / Q000627:therapeutic use*; D003879:Dermatologic Agents / Q000627:therapeutic use*; D005786:Gene Expression Regulation; D005799:Genes, Dominant; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D015316:Genetic Therapy / Q000639:trends*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000276:immunology / Q000628:therapy*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017410:Practice Guidelines as Topic; D016032:Randomized Controlled Trials as Topic
chemical_list: D003879:Dermatologic Agents; D003545:Cysteine