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Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.

Pediatric dermatology - 1 Jan 2000

Noguera-Morel Lucero, Feito-Rodríguez Marta, Maldonado-Cid Paola, García-Miñáur Sixto, Kamsteeg Erik-Jan, González-Sarmiento Rogelio, De Lucas-Laguna Raúl, Hernández-Martín Angela, Torrelo Antonio

Abstract excerpt

Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self-healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of...

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Share to Cytochrome P-450 Enzyme System
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Ichthyosiform Erythroderma, Congenital

Share to Ichthyosis, Lamellar

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Share to Infant, Newborn

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Source

Identifiers

PMID: 26646773
DOI: 10.1111/pde.12740

Genes

ALOXE3
TGM1

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.

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Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.PMID 26646773Read ↗

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