Ichthyosis with confetti: Clinics, molecular genetics and management Rare skin diseases

Research output: Contribution to journalArticle

Abstract

Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichthyosiform erythroderma or with a collodion baby picture. The erythrodermic and ichthyotic phenotype persists during life and its severity may modify. However, the hallmark of the disease is the appearance, in childhood or later in life, of healthy skin confetti-like spots, which increase in number and size with time. IWC is a very rare genodermatosis, with a prevalence

Original languageEnglish
Article number115
JournalOrphanet Journal of Rare Diseases
Volume10
Issue number1
DOIs
Publication statusPublished - Sep 17 2015

Keywords

  • Congenital reticular ichthyosiform erythroderma
  • Ear hypoplasia
  • Ichthyosis variegata
  • Ichthyosis with confetti
  • Keratin 1
  • Keratin 10
  • Loss of heterozygosity
  • Mammillae hypoplasia
  • Revertant skin

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

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