Evidence map›Paper›PMID 29934657›Full record

ArticleVirchows Archiv : an international journal of pathology2018

A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib.

Vera Baur, Thomas Papadopoulos, Dmitry V Kazakov, Abbas Agaimy, Arndt Hartmann, Georg Isbary, Ralph M Wirtz, Erwin S Schultz

Abstract readCase Reports
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In one paragraph

Article in Virchows Archiv : an international journal of pathology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.4field-weighted citation impact, top 18% 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

3 citing papers in PubMed, 14 citations in OpenAlex.

  1. Analysis of CYLD gene variants in 41 patients with multiple familial trichoepithelioma.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026
    Article
  2. Article
  3. 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

8 authors at 4 institutions in 2 countries.

Vera BaurDepartment of Dermatology, Paracelsus Medical University Nuremberg, Prof.-Ernst Nathan Straße 1, 90419, Nürnberg, Germany.
Thomas PapadopoulosInstitute of Pathology, Paracelsus Medical University Nuremberg, Prof.-Ernst Nathan Straße 1, 90482, Nuremberg, Germany.
Dmitry V KazakovDepartment of Pathology, Medical Faculty in Pilsen, Charles University Prague, Alej Svobody 80, 304 60, Pilsen, Czech Republic.
Abbas AgaimyInstitute of Pathology, Friedrich Alexander University, Erlangen-Nuremberg, Krankenhausstrasse 8-10, 91054, Erlangen, Germany.
Arndt HartmannInstitute of Pathology, Friedrich Alexander University, Erlangen-Nuremberg, Krankenhausstrasse 8-10, 91054, Erlangen, Germany.
Georg IsbaryRoche Pharma-AG, Grenzach-Wyhlen, Emil-Barell Straße 1, 79639, Grenzach, Germany.
Ralph M WirtzSTRATIFYER Molecular Pathology GmbH, Cologne and Institute of Pathology, St. Elisabeth Hospital, Cologne, Werthmannstraße 1, 50935, Cologne, Germany.
Erwin S SchultzDepartment of Dermatology, Paracelsus Medical University Nuremberg, Prof.-Ernst Nathan Straße 1, 90419, Nürnberg, Germany. Erwin.Schultz@klinikum-nuernberg.de.ORCID http://orcid.org/0000-0003-0426-8074
Paracelsus Medizinische Privatuniversität · DEFriedrich-Alexander-Universität Erlangen-Nürnberg · DECharles University · CZRoche Pharma AG (Germany) · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple familial trichoepitheliomas (MFT) is an autosomal dominantly inherited disease characterized by multiple skin appendage tumors. We describe a patient showing a continuous spectrum of follicular differentiated neoplasms including classical trichoepitheliomas but also infiltrative growing and finally metastasizing malignant follicular differentiated tumors. Germline mutation analysis revealed a nonsense mutation in the cylindromatosis (CYLD) gene. Gene expression analysis by real-time PCR of tumor tissue showed overexpression of glioma-associated oncogene Gli1 mRNA. Treatment with the Hedgehog pathway inhibitor vismodegib resulted in a significant regression of the highly differentiated trichoepitheliomas. Gli upregulation is indicative of an active Hedgehog signaling pathway. We hypothesize that its upregulation is indirectly caused by CYLD mutation which promotes tumor development. Vismodegib treatment could thus provide a new treatment option for patients with this debilitating disorder.

Indexed as

AnilidesAntineoplastic AgentsCodon, NonsenseDeubiquitinating Enzyme CYLDGenetic Predisposition to DiseaseHeredityHumansImmunohistochemistryMaleMiddle AgedNeoplastic Syndromes, HereditaryPedigreePhenotypePyridinesSignal TransductionSkin NeoplasmsAnilidesAntineoplastic AgentsCodon, NonsenseCYLD protein, humanDeubiquitinating Enzyme CYLDGLI1 protein, humanHhAntag691PyridinesZinc Finger Protein GLI1Brooke syndromeCYLDHedgehog pathwayTrichoepitheliomaVismodegib

Identifiers

PMID29934657
OpenAlexW2809575916

What OpenQuestion holds

Textmetadata
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.