Evidence map›Paper›PMID 41983145›Full record

ArticleCase reports in dermatology

Ocular Manifestations Leading to the Diagnosis of Pseudoxanthoma Elasticum with a Novel Heterozygous ABCC6 Mutation: A Case Report.

Akihiro Fukuta, Yohei Iwata, Rena Yasuda, Akira Iwanaga, Hiroyuki Murota, Kazumitsu Sugiura

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

Article in Case reports in 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

6 authors.

Akihiro FukutaDepartment of Dermatology, Fujita Health University Okazaki Medical Center, Okazaki, Japan.
Yohei IwataDepartment of Dermatology, Fujita Health University School of Medicine, Okazaki, Japan.
Rena YasudaDepartment of Dermatology, Fujita Health University Okazaki Medical Center, Okazaki, Japan.
Akira IwanagaDepartment of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Hiroyuki MurotaDepartment of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Kazumitsu SugiuraDepartment of Dermatology, Fujita Health University School of Medicine, Okazaki, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Pseudoxanthoma elasticum (PXE) is a progressive hereditary disease caused by the calcification and degeneration of elastic fibers, affecting the skin, retina, blood vessels, and gastrointestinal tracts. The gene responsible is the ATP-binding cassette subfamily C member 6 ( Case Presentation: A 47-year-old man presented to an ophthalmologist with a right eyelid contusion. Fundus examination revealed right macular hemorrhage and bilateral angioid streaks. PXE was suspected due to skin lesions around the neck and abdomen; he was referred to our dermatology department. Histopathological examination revealed degenerated anucleate elastic fibers with calcification in the mid-dermis. Genetic testing revealed a previously unreported heterozygous Conclusion: In some PXE cases, the

Indexed as

ABCC6 geneGenetic testingHeterozygousPseudoxanthoma elasticum

Identifiers

PMID41983145
PMCPMC13075883

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.