Evidence map›Paper›PMID 40469237›Full record

ArticleJID innovations : skin science from molecules to population health2025

Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.

Dario Tomasini, Carlo F Tomasini, Andrea Michelerio, Eloisa Arbustini, Fabio Sirchia, Alrun Hotz, Judith Fischer, Svenja Rademacher

Abstract readCase Reports
In one paragraph

Article in JID innovations : skin science from molecules to population health, 2025. 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

8 authors.

Dario TomasiniDivision of Dermatology, Medical Department, ASST Valle Olona, Hospital of Busto Arsizio, Busto Arsizio, Italy.
Carlo F TomasiniDepartment of Clinical-Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.
Andrea MichelerioDermatology Clinic, IRCCS San Matteo Foundation, Pavia, Italy.
Eloisa ArbustiniTransplant Research Area and Centre for Inherited Cardiovascular Diseases, Department of Medical Sciences and Infectious Diseases, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Fabio SirchiaDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Alrun HotzInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Judith FischerInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Svenja RademacherInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis involving the folds with lentiginous hyperpigmentation and reddish-brown papules. Four main types of DDD with variable clinical presentations likely related to the heterogeneity of the gene variant landscape have been implicated. Pathogenic keratin 5 gene

Indexed as

Clinical researchCytoskeletonGenetic diseasesGenodermatosisHuman genetic

Identifiers

PMID40469237
PMCPMC12135370

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Registered trials

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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.