Evidence map›Paper›PMID 39644163›Full record

ArticlePediatric dermatology

Mosaic KRAS Mutation in Schimmelpenning-Feuerstein-Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.

Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula-Jouppi Katariina

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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 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. 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.

Hyvönen HannaDepartment of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.ORCID https://orcid.org/0000-0002-9597-7978
Kettunen KaisaLaboratory of Genetics, Division of Genetics and Clinical Pharmacology, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Avela KristiinaDepartment of Clinical Genetics, University of Helsinki and Helsinki University Hospital. Department of Medical Genetics, University of Turku and Turku University Hospital, Helsinki, Finland.
Kivirikko SirpaDepartment of Clinical Genetics, ERN Ithaca, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Jeskanen LeilaDepartment of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Suominen SinikkaDepartment of Plastic Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Salminen PäiviDepartment of Pediatric Surgery, HUS Rare Diseases Center, VASCERN VASCA European Reference Centre, New Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Hannula-Jouppi KatariinaDepartment of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Funding

the State Funding for University-level Health Research.
6 · The paper itself

Abstract

We report a patient with clinically confirmed Schimmelpenning-Feuerstein-Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients. These findings corroborate the evidence of SFM syndrome being a mosaic RASopathy, broaden the phenotypic spectrum of oculocutaneous mosaic RASopathies, and indicate SFM syndrome as a continuum of the OES-ECCL disorder spectrum.

Indexed as

Ectodermal DysplasiaLipomatosisNeurocutaneous SyndromesProto-Oncogene Proteins p21(ras)Exome SequencingEye DiseasesHumansMosaicismMutationKRAS protein, humanProto-Oncogene Proteins p21(ras)dermatologygenotypemosaicismmutationphenotype

Identifiers

PMID39644163
PMCPMC12118521

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.