Evidence map›Paper›PMID 41088746›Full record

ArticlePediatric dermatology

Erythrokeratodermia-Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions.

Sepideh Hamzehlou, Ryland D Mortlock, Caroline Echeandia-Francis, Jing Zhou, Chao Xing, Nnenna G Agim, Keith A Choate, Donald A Glass

Abstract readCase Reports
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. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

8 authors.

Sepideh HamzehlouDepartment of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.ORCID https://orcid.org/0000-0003-4670-8082
Ryland D MortlockDepartment of Dermatology, Yale University, School of Medicine, New Haven, Connecticut, USA.ORCID https://orcid.org/0000-0001-9666-4394
Caroline Echeandia-FrancisDepartment of Dermatology, Yale University, School of Medicine, New Haven, Connecticut, USA.
Jing ZhouDepartment of Dermatology, Yale University, School of Medicine, New Haven, Connecticut, USA.
Chao XingMcDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.ORCID https://orcid.org/0000-0002-1838-0502
Nnenna G AgimDepartment of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.ORCID https://orcid.org/0000-0002-3915-6841
Keith A ChoateDepartment of Dermatology, Yale University, School of Medicine, New Haven, Connecticut, USA.ORCID https://orcid.org/0000-0003-1010-6354
Donald A GlassDepartment of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.ORCID https://orcid.org/0000-0003-0866-770X

Funding

Genetics and Pathobiology of Disorders of KeratinizationR01AR068392 · NIAMS · YALE UNIVERSITY · PI KEITH A CHOATE · 2015 to 2026
$5.7M
NIAMS NIH HHS R01AR068392
6 · The paper itself

Abstract

Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP). We report two cases of EKC with novel de novo missense DSP variants at phenylalanine position 590 (F590S and F590V), expanding the mutational spectrum beyond proline substitutions. Immunostaining demonstrated disrupted desmosomal protein localization. One patient showed significant clinical improvement with ustekinumab therapy. These findings underscore the need for early cardiac monitoring and support IL-12/23p40 inhibition as a potential therapeutic strategy in EKC.

Indexed as

Cardiomyopathy, DilatedDesmoplakinsFemaleHumansMaleMutation, MissenseProlineDesmoplakinsDSP protein, humanProline

Identifiers

PMID41088746
PMCPMC13051025

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.