Evidence map›Paper›PMID 40290853›Full record

ArticleAmerican journal of ophthalmology case reports2025

Unveiling the complexity of Schimmelpenning-Feuerstein-Mims syndrome: A comprehensive case study.

Guillermo Raul Vera-Duarte, Ruth Eskenazi-Betech, Isabel De la Fuente-Batta, David Carreño-Bolaños, Oscar F Chacón-Camacho, Juan C Zenteno, Enrique O Graue-Hernandez

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of ophthalmology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Pooled it
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

7 authors.

Guillermo Raul Vera-DuarteDepartment of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Ruth Eskenazi-BetechDepartment of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Isabel De la Fuente-BattaDepartment of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
David Carreño-BolañosDepartment of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Oscar F Chacón-CamachoDepartment of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Juan C ZentenoDepartment of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Enrique O Graue-HernandezDepartment of Cornea, External Disease and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The purpose of this study was to report the comprehensively examined patient exhibiting oculocutaneous clinical features of Schimmelpenning-Feuerstein-Mims syndrome (SFMS). Background: Schimmelpenning-Feuerstein-Mims syndrome (SFMS) is a rare phakomatosis characterized by the presence of sebaceous hamartomas on the skin along with extracutaneous abnormalities involving various neuroectodermal systems. The syndrome is typically sporadic and can originate from postzygotic mutations in genes implicated in the RAS signaling pathway (RAS proteins and their downstream pathways play pivotal roles in cell proliferation, differentiation, survival, and cell death): Conclusion and importance: The SFM is attributed to a pathogenic variant in

Indexed as

KRAS geneLinear nevus sebaceousSchimmelpenning–Feuerstein–Mims syndrome

Identifiers

PMID40290853
PMCPMC12023775

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.