Evidence map›Paper›PMID 40682439›Full record

ReviewPediatric dermatology2025

Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism-Not to Be Confused With NF1.

Karina M Forde, Nicole Knöpfel, Ulrike Loebel, Veronica A Kinsler

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

Review in Pediatric dermatology, 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. Review
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

4 authors.

Karina M FordePaediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.ORCID https://orcid.org/0000-0001-5220-7220
Nicole KnöpfelPaediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.ORCID https://orcid.org/0000-0002-6438-6550
Ulrike LoebelNeuroradiology Unit, Department of Radiology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.
Veronica A KinslerPaediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential diagnosis for neurofibromatosis.

Indexed as

MosaicismNeurofibromaNeurofibromatosis 1Nevus, PigmentedProto-Oncogene Proteins p21(ras)Skin NeoplasmsDiagnosis, DifferentialFemaleHumansMaleKRAS protein, humanProto-Oncogene Proteins p21(ras)mosaicismneurofibromatosis type 1phakomatosis pigmentokeratoticaspinal neurofibromas

Identifiers

PMID40682439
PMCPMC12854912

What OpenQuestion holds

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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.