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Article

Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.

The British journal of dermatology - 1 Jul 2010

Akiyama M, Sakai K, Yanagi T, Tabata N, Yamada M, Shimizu H

Abstract excerpt

Congenital ichthyosiform erythroderma (CIE) (OMIM 242100) is a major type of autosomal recessive congenital ichthyosis (ARCI) showing generalized scaling and erythroderma without blister formation. Mutations in ALOX12B (OMIM 603741), encoding 12R-lipoxygenase (LOX), were identified in patients with CIE in 2002. To date, several ALOX12B mutations have been reported in CIE families. LOXs are a family of nonhaem,...

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Identifiers

PMID: 20222929
DOI: 10.1111/j.1365-2133.2010.09745.x

Genes

LOX

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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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