ReviewEuropean journal of human genetics : EJHG2013
Inherited ichthyoses/generalized Mendelian disorders of cornification.
Review in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed, 128 citations in OpenAlex.
- The skin-specific long non-coding RNA TEDAR orchestrates late epidermal differentiation via an ERK-KLF4 cytoplasmic regulatory axis.Cell death & disease · 2026Article
- Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Article
- Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder.Journal of lipid research · 2025Article
- Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.Orphanet journal of rare diseases · 2024Article
- A cellular disease model toward gene therapy ofMolecular therapy. Methods & clinical development · 2024Article
- Genetic testing and new variants in diagnosis of congenital ichthyoses.Molecular genetics & genomic medicine · 2024Article
- Hair follicles modulate skin barrier function.Cell reports · 2024Article
- Hair follicles modulate skin barrier function.bioRxiv : the preprint server for biology · 2024Article
- Novel peeling skin condition in neonatal Pacific walruses, Saint Lawrence Island, Alaska, USA.Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2023Article
- Evaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experience.Journal of clinical practice and research · 2023Article
- Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs.Frontiers in pharmacology · 2023Review
- Review
- Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.Journal of the European Academy of Dermatology and Venereology : JEADV · 2022Review
- Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation.Indian journal of ophthalmology · 2022Article
- Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel MutationsMedeniyet medical journal · 2022Article
- ABHD5 frameshift deletion in Golden Retrievers with ichthyosis.G3 (Bethesda, Md.) · 2022Article
- Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.Journal of clinical medicine · 2021Review
- Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.BMC medical genomics · 2021Article
- Novel Homozygous Mutations in the GenesGenes · 2021Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Diagnosing a specific entity is a particular challenge for the nonspecialist presented with the common clinical scaling. For the clinician, this review outlines an algorithmic approach for utilizing diagnostic clues to narrow down the differential diagnosis and to guide further testing and treatment options.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.