Evidence map›Paper›PMID 40901220›Full record

ArticleCureus2025

Threads of Elasticity: A Single Variant Journey Through Pseudoxanthoma Elasticum's Clinical Maze.

Divyashri R Nagarajan, Daya Mani Jacob, Sathya Kakade

Abstract readCase Reports
In one paragraph

Article in Cureus, 2025. 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

3 authors.

Divyashri R NagarajanOphthalmology, Burjeel Medical City, Abu Dhabi, ARE.
Daya Mani JacobInternal Medicine, Burjeel Medical City, Abu Dhabi, ARE.
Sathya KakadeOphthalmology, Burjeel Medical City, Abu Dhabi, ARE.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present a case of a 23-year-old female with characteristic skin papules and angioid streaks characteristic of pseudoxanthoma elasticum (PXE), an autosomal recessive disorder of elastic fiber mineralization. Genomic sequencing revealed a heterozygous variant in the ABCC6 gene. Despite the absence of biallelic mutations, the clinical phenotype aligns with PXE. Our focus in this report is to highlight the importance of multidisciplinary assessment, genotype-phenotype correlation, and the diagnostic role of ophthalmic findings in patients with atypical or partial PXE presentations.

Indexed as

abcc6 gene mutationangioid streakschoroidal neovascularizationmonoallelic variantpseudoxanthoma elasticum

Identifiers

PMID40901220
PMCPMC12400002

What Socratic 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 Socratic graph.