ArticleJACC. Case reports2026
Epidermolysis Bullosa Related to the KLHL24 Gene: A Rare Pediatric Manifestation of Arrhythmogenic Cardiomyopathy.
Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEpidermolysis bullosa simplex (EBS) is a rare inherited skin disorder. Mutations in the KLHL24 gene have been reported in a unique EBS subtype that is associated with dilated cardiomyopathy and sudden cardiac death, usually in early adulthood. CASES SUMMARY: We describe 2 pediatric patients affected by EBS-KLHL24 who developed arrhythmogenic cardiomyopathies. Electrocardiogram and exercise stress test documented polymorphic ectopic beats. Cardiac magnetic resonance showed diffuse biventricular late gadolinium enhancement. Both patients required medical treatment, and one of the patients received an implantable cardioverter-defibrillator for primary prevention owing to nonsustained ventricular tachycardia. DISCUSSION: The emerging picture is that KLHL24 mutation causes a desminopathy characterized by a cardiocutaneous syndrome, with onset in pediatric age, in which cardiomyopathy and arrhythmias are dominant. TAKE-HOME MESSAGE: Given the potential early onset and the rapid progression of EBS-KHLH24 cardiomyopathy, with the high risk of life-threatening arrhythmias and sudden cardiac death, routine cardiac screening at an early age is recommended.
Indexed as
Identifiers
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.