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

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13 Citations (Scopus)

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

Fingerprint

Ichthyosis
Rare Diseases
Skin Diseases
Molecular Biology
Congenital Ichthyosiform Erythroderma
Exfoliative Dermatitis
Collodion
Parturition
Phenotype
Skin

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)

Cite this

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title = "Ichthyosis with confetti: Clinics, molecular genetics and management Rare skin diseases",
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",
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author = "Liliana Guerra and Andrea Diociaiuti and {El Hachem}, May and Daniele Castiglia and Giovanna Zambruno",
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AU - Guerra, Liliana

AU - Diociaiuti, Andrea

AU - El Hachem, May

AU - Castiglia, Daniele

AU - Zambruno, Giovanna

PY - 2015/9/17

Y1 - 2015/9/17

N2 - 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

AB - 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

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KW - Mammillae hypoplasia

KW - Revertant skin

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