Evidence map›Paper›PMID 28121638›Full record

ArticleThe American Journal of dermatopathology2017

Epidermolytic Ichthyosis Sine Epidermolysis.

Marina Eskin-Schwartz, Marianna Drozhdina, Ofer Sarig, Andrea Gat, Tomer Jackman, Ofer Isakov, Noam Shomron, Liat Samuelov, Natalia Malchin, Alon Peled and 9 more

Open access · greenAbstract readCase Reports
In one paragraph

Article in The American Journal of dermatopathology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 30% of its field
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

5 citing papers in PubMed, 16 citations in OpenAlex.

  1. Review
  2. Article
  3. [Erythroderma and epidermal blistering in a newborn].Dermatologie (Heidelberg, Germany) · 2023
    Article
  4. Article
  5. 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

19 authors at 6 institutions in 5 countries.

Marina Eskin-Schwartz*Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; †Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ‡Department of Dermatology, Kirov State Medical Academy, Kirov, Russia; §Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; ¶Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ‖INSERM UMR 1163, Imagine Institute, University Paris Descartes Sorbonne Cité, Paris, France; **Department of Genetics, Necker hospital for sick children, APHP, Paris, France; ††Department of Dermatology and Allergology, Ludwig-Maximilian-University, Munich, Germany; and Departments of ‡‡Pathology, §§Dermatology, and ¶¶Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.
Marianna Drozhdina
Ofer Sarig
Andrea Gat
Tomer Jackman
Ofer Isakov
Noam Shomron
Liat Samuelov
Natalia Malchin
Alon Peled
Dan Vodo
Alain Hovnanian
Thomas Ruzicka
Sergei Koshkin
Robert M Harmon
Jennifer L Koetsier
Kathleen J Green
Amy S Paller
Eli Sprecher
Tel Aviv Sourasky Medical Center · ILTel Aviv University · ILKirov State Medical Academy · RUDélégation Paris 5 · FRLudwig-Maximilians-Universität München · DENorthwestern University · US

Funding

Desmoplakin Assembly and Function in EpidermisR37AR043380 · NIAMS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI GREEN, KATHLEEN JANEE · 2011 to 2020
$4.6M
NIAMS NIH HHS R37 AR043380
6 · The paper itself

Abstract

Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI. The patients were shown to carry classical mutations in KRT1 or KRT10, but did not display epidermolytic changes on histology. These observations underscore the need to remain aware of the limitations of pathological features when considering a diagnosis of EI.

Indexed as

BiopsyChild, PreschoolDNA Mutational AnalysisGenetic MarkersGenetic Predisposition to DiseaseHeredityHumansHyperkeratosis, EpidermolyticImmunohistochemistryKeratin-1Keratin-10MaleMutationPedigreePhenotypePredictive Value of TestsGenetic MarkersKeratin-1Keratin-10KRT10 protein, humanKRT1 protein, human

Identifiers

PMID28121638
PMCPMC5489912
OpenAlexW2579895995

What OpenQuestion holds

Textmetadata
LicenceTDM
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.