Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Recent advances in the genetics and management of harlequin ichthyosis.

Pediatric dermatology - 1 Jan 2000

Ahmed Hera, O'Toole Edel A

Abstract excerpt

Harlequin ichthyosis (HI) is the most severe and devastating form of the autosomal recessive congenital ichthyoses (ARCIs). Mutations in the ABCA12 gene result in disruption of intercellular lipid deposition in the stratum corneum and a major skin barrier defect. Patients present at birth, often premature, with cutaneous thick, yellow, hyperkeratotic plates with deep erythematous fissures, causing a typical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP-Binding Cassette Transporters
Share to Genetic Therapy
Share to Ichthyosis, Lamellar

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Share to Palliative Care

Share to Retinoids

Share to Survival Rate

Source

Identifiers

PMID: 24920541
DOI: 10.1111/pde.12383

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recent advances in the genetics and management of harlequin ichthyosis.PMID 24920541Read ↗

Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.Semantic proximity Read ↗

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.Semantic proximity Read ↗

Harlequin ichthyosis unmasked: a defect of lipid transport.Semantic proximity Read ↗

Harlequin Ichthyosis - A Case Report.Semantic proximity Read ↗

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.Semantic proximity Read ↗

Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation.Semantic proximity Read ↗

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.Semantic proximity Read ↗

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.Semantic proximity Read ↗

Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.Semantic proximity Read ↗

An update on molecular aspects of the non-syndromic ichthyoses.Semantic proximity Read ↗

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.Semantic proximity Read ↗

ABCA12 is the major harlequin ichthyosis gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.