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Article

Ichthyosis with confetti: clinics, molecular genetics and management.

Orphanet journal of rare diseases - 17 Sept 2015

Guerra Liliana, Diociaiuti Andrea, El Hachem May, Castiglia Daniele, Zambruno Giovanna

Abstract excerpt

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...

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Source

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Identifiers

PMID: 26381864
DOI: 10.1186/s13023-015-0336-4
PMCID: PMC4573700

Genes

KRT1
KRT10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Ichthyosis with confetti: clinics, molecular genetics and management.PMID 26381864Read ↗

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Expanding the Mutation Spectrum of Ichthyosis with Confetti.Semantic proximity Read ↗

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Ichthyosis with confetti presenting as collodion baby: a novel mutation in KRT10.Semantic proximity Read ↗

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