Sebaceomas in a Muir-Torre-like Phenotype in a Patient with MUTYH-Associated Polyposis.

Julia Guarrera, James C Prezzano, Kathleen A Mannava

Open access · goldAbstract readCase Reports

In one paragraph

Article in Dermatopathology (Basel, Switzerland), 2024. 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

0.4field-weighted citation impact, top 42% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

Genetic Drivers in Sebaceous Neoplasms: A Review of Germline and Somatic Mutations and Their Role in Treatment and Management Strategies.Cancers · 2025
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

3 authors at 2 institutions in 1 country.

Julia GuarreraNorton College of Medicine, SUNY Upstate Medical University, Syracuse, NY 13210, USA.

James C PrezzanoFayetteville Dermatology, Fayetteville, NY 13066, USA.

Kathleen A MannavaDepartment of Pathology & Laboratory Medicine, Department of Dermatology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14620, USA.

SUNY Upstate Medical University · USUniversity of Rochester · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This case report describes a case of a patient with MUTYH-associated polyposis (MAP), who presented with multiple sebaceomas in a Muir-Torre-like phenotype. MAP is caused by mutations in MUTYH, a base excision repair gene responsible for detecting and repairing the 8-oxo-G:A transversion caused by reactive oxygen species. MAP is associated with an increased risk of developing adenomatous polyps and colorectal cancer. Muir-Torre syndrome is a clinical phenotype of Lynch syndrome, which presents with multiple cutaneous sebaceous neoplasms. Lynch syndrome, like MAP, increases the likelihood of developing colorectal cancer but with a different pathogenesis and mode of inheritance. This case demonstrates that in a patient presenting with multiple sebaceous neoplasms, further workup and genetic testing may be indicated, not only for Muir-Torre and Lynch syndrome but also for MAP.

Indexed as

colorectal cancerLynch syndromeMuire–Torre syndromeMUTYH associated polyposissebaceomasebaceous neoplasm

Identifiers

PMID38534264

DOI10.3390/dermatopathology11010011

PMCPMC10968805

OpenAlexW4392369663

What OpenQuestion holds

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LicenceCC BY

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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.