Evidence map›Paper›PMID 41802732›Full record

ArticlePediatric dermatology

Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.

Sofia Guelfand Warnken, Jon Kibbie, Austin Larson, Kathryn C Chatfield, Anna L Bruckner

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PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Sofia Guelfand WarnkenDepartment of Dermatology, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.ORCID https://orcid.org/0000-0002-7383-241X
Jon KibbieDepartment of Dermatology, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.ORCID https://orcid.org/0000-0003-0140-7964
Austin LarsonDepartment of Pediatrics, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Kathryn C ChatfieldDepartment of Pediatrics, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Anna L BrucknerDepartment of Dermatology, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.ORCID https://orcid.org/0000-0002-2035-4127

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epidermolysis bullosa simplex (EBS) with cardiomyopathy is a rare subtype caused by gain-of-function pathogenic variants in the KLHL24 gene, leading to both skin and cardiac involvement. We report a neonate with congenital erosions, scarring, and follicular atrophoderma, but minimal blistering, later confirmed to have a pathogenic KLHL24 variant. This presentation highlights atypical neonatal features that may mimic other conditions and emphasizes the importance of early genetic diagnosis. Given the risk of dilated cardiomyopathy, ongoing cardiac monitoring and family evaluation are essential.

Indexed as

Epidermolysis Bullosa SimplexHumansInfant, NewbornMutationSkincardiomyopathycongenital abnormalitiesdilatedepidermolysis bullosa simplexgenetic skin diseaseskeratinocyte

Identifiers

PMID41802732
PMCPMC13423111

What OpenQuestion holds

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Registered trials

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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.