Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.

doi:10.1016/j.jdermsci.2006.01.003

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Article

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.

Journal of dermatological science - 1 May 2006

Akiyama Masashi

Abstract excerpt

Autosomal recessive congenital ichthyoses (ARCI) include several severe subtypes including harlequin ichthyosis (HI), lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. Patients with these severe types of ichthyoses frequently show severe hyperkeratosis and scales over a large part of the body surface form birth and their quality of life is often severely affected. Recently, research into...

Topics

ATP-Binding Cassette Transporters
Arachidonate 12-Lipoxygenase
Genes, Recessive
Genetic Predisposition to Disease
Humans
Ichthyosis, Lamellar
Lipoxygenase
Models, Biological
Prenatal Diagnosis
Receptors, Cell Surface
Transglutaminases

Source

Open in PubMed

Identifiers

PMID: 16481150
DOI: 10.1016/j.jdermsci.2006.01.003

Genes

ABCA12
ALOXE3
TGM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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