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Article

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

The Journal of investigative dermatology - 1 Feb 2010

Vahlquist Anders, Bygum Anette, Gånemo Agneta, Virtanen Marie, Hellström-Pigg Maritta, Strauss Gitte, Brandrup Flemming, Fischer Judith

Abstract excerpt

Infants born with autosomal recessive congenital ichthyosis (ARCI) are often encapsulated in a collodion membrane, which shows a lamellar or erythrodermic type of ichthyosis upon shedding. However, some babies show a nearly normal underlying skin after several weeks, a phenotype called "self-healing collodion baby" (SHCB). Mutations in two genes, TGM1 and ALOX12B, have previously been implicated in the etiology...

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Source

Identifiers

PMID: 19890349
DOI: 10.1038/jid.2009.346

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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