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Síndrome Muir-Torre

A Síndrome de Muir-Torre (SMT) é um tipo de câncer de intestino (colorretal) hereditário, também conhecido como Câncer Colorretal Hereditário Sem Polipose (HNPCC). Ela é caracterizada por tumores nas glândulas sebáceas da pele, lesões de pele chamadas queratoacantomas e pelo menos um câncer em órgãos internos, sendo o mais comum um câncer no sistema digestório.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Síndrome de Muir-Torre (SMT) é um tipo de câncer de intestino (colorretal) hereditário, também conhecido como Câncer Colorretal Hereditário Sem Polipose (HNPCC). Ela é caracterizada por tumores nas glândulas sebáceas da pele, lesões de pele chamadas queratoacantomas e pelo menos um câncer em órgãos internos, sendo o mais comum um câncer no sistema digestório.

Pesquisas ativas
1 ensaio
7 total registrados no ClinicalTrials.gov
Publicações científicas
559 artigos
Último publicado: 2026
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
3 sintomas
🫘
Rins
2 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

100%prev.
Carcinoma de glândula sebácea
Frequência: 3/3
100%prev.
Neoplasia ovariana
Obrigatório (100%)
100%prev.
HP:0003596
Frequência: 3/3
67%prev.
Câncer de cólon
Frequência: 2/3
Adenoma sebáceo
Divertículos colônicos
14sintomas
Muito frequente (3)
Frequente (1)
Sem dados (10)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.

Carcinoma de glândula sebáceaSebaceous gland carcinoma
Frequência: 3/3100%
Neoplasia ovarianaOvarian neoplasm
Obrigatório (100%)100%
HP:0003596
Frequência: 3/3100%
Câncer de cólonColon cancer
Frequência: 2/367%
Adenoma sebáceoAdenoma sebaceum

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico559PubMed
Últimos 10 anos200publicações
Pico202329 papers
Linha do tempo
2026Hoje · 2026🧪 2014Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição.

MSH2DNA mismatch repair protein Msh2Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides

LOCALIZAÇÃO

NucleusChromosome

VIAS BIOLÓGICAS (5)
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)TP53 Regulates Transcription of DNA Repair GenesMismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)Defective Mismatch Repair Associated With MSH3Defective Mismatch Repair Associated With MSH6
MECANISMO DE DOENÇA

Lynch syndrome 1

A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
34.5 TPM
Cérebro - Hemisfério cerebelar
23.4 TPM
Testículo
21.1 TPM
Cerebelo
19.8 TPM
Fibroblastos
19.7 TPM
OUTRAS DOENÇAS (5)
Muir-Torre syndromemismatch repair cancer syndrome 2Lynch syndrome 1Lynch syndrome
HGNC:7325UniProt:P43246
MLH1DNA mismatch repair protein Mlh1Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points f

LOCALIZAÇÃO

NucleusChromosome

VIAS BIOLÓGICAS (5)
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)TP53 Regulates Transcription of DNA Repair GenesMeiotic recombinationDefective Mismatch Repair Associated With PMS2
MECANISMO DE DOENÇA

Lynch syndrome 2

A form of Lynch syndrome, an autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. Lynch syndrome is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, it is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical Lynch syndrome is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected Lynch syndrome' or 'incomplete Lynch syndrome' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
48.5 TPM
Testículo
44.5 TPM
Fibroblastos
33.8 TPM
Pituitária
33.4 TPM
Cervix Ectocervix
33.1 TPM
OUTRAS DOENÇAS (6)
Lynch syndrome 2Muir-Torre syndromeLynch syndromeLynch syndrome 1
HGNC:7127UniProt:P40692

Variantes genéticas (ClinVar)

8,329 variantes patogênicas registradas no ClinVar.

🧬 MLH1: NM_000249.4(MLH1):c.642del (p.Asp214fs) ()
🧬 MLH1: NM_000249.4(MLH1):c.143A>T (p.Gln48Leu) ()
🧬 MLH1: NM_000249.4(MLH1):c.1038+2T>G ()
🧬 MLH1: NM_000249.4(MLH1):c.1238del (p.Thr413fs) ()
🧬 MLH1: NM_000249.4(MLH1):c.483del (p.Arg162fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 611 variantes classificadas pelo ClinVar.

214
397
Patogênica (35.0%)
VUS (65.0%)
VARIANTES MAIS SIGNIFICATIVAS
MSH2: NM_000251.3(MSH2):c.368_645+1del [Likely pathogenic]
MSH2: NM_000251.3(MSH2):c.942+3_942+4delinsGG [Likely pathogenic]
MSH2: NM_000251.3(MSH2):c.367-400_476del [Likely pathogenic]
MSH2: NC_000002.11:g.47630331_47643568dup [Pathogenic]
NC_000003.12:g.48091287_48091298del [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Muir-Torre

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

7 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
248 papers (10 anos)
#1

Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome.

JID innovations : skin science from molecules to population health2026 Mar

Whole-genome sequencing can uncover clinically significant noncoding variants missed by standard germline testing, as demonstrated in this report in a patient with Muir-Torre syndrome, a subtype of Lynch syndrome. In this case, despite a convincing clinical phenotype and immunohistochemical loss of MSH2/MSH6 in 1 of the patient's tumors, conventional gene panel testing failed to detect a germline pathogenic variant. Whole-genome sequencing identified a deep intronic MSH2 variant, and tumor sequencing revealed somatic MSH2 mutations (second hits) across multiple tumors, confirming mismatch repair deficiency and establishing a Muir-Torre syndrome diagnosis. This report underscores the limitations of routine genetic testing and highlights the clinical utility of whole-genome sequencing in identifying pathogenic variants in noncoding regions. It also emphasizes the role of dermatologists in recognizing cutaneous markers of hereditary cancer syndromes and the importance of interdisciplinary evaluation in guiding both patient care and familial risk assessment.

#2

Muir-Torre Syndrome: A Rare Case Report and Review of Literature.

Clinical, cosmetic and investigational dermatology2026

Muir-Torre syndrome (MTS) is an uncommon autosomal dominant disorder characterized by germline mutations in DNA mismatch repair (MMR) genes, resulting in microsatellite instability (MSI). It is regarded as a variant form of Lynch syndrome, characterized by the co-occurrence of at least one cutaneous sebaceous neoplasm and at least one visceral malignancy. Furthermore, studies have indicated that MTS may manifest in transplant recipients and in immunocompromised patients. The diagnosis and management of such cases necessitate a multidisciplinary approach. Here, we report a case of a Chinese patient with a history of rectal cancer who developed multiple sebaceous adenomas during immunosuppressive therapy six years after renal transplantation. This case report not only provides additional evidence for the inducing effect of immunosuppressants on MTS but also emphasizes the importance of a thorough diagnosis of MTS and the significance of preventing the development of potential skin tumors in patients with MTS.

#3

Mismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.

American journal of ophthalmology2026 Feb 18

To assess mismatch repair (MMR) deficiency in ocular sebaceous neoplasms that are not poorly differentiated sebaceous carcinomas, and to explore the characteristics of atypical lesions based on clinicopathologic and immunophenotypic findings. A retrospective observational case series. Consecutive cases of 14 benign or atypical ocular sebaceous neoplasms diagnosed from January 2018 to June 2025. Clinical and pathological data were reviewed and compared among three groups: sebaceous adenomas (n = 6), atypical sebaceous neoplasms (n = 3), and sebaceomas (n = 5). The association with Muir-Torre syndrome (MTS) was also evaluated. Clinical and histomorphological features (including growth pattern and ulceration), immunohistochemistry (MMR protein status, epithelial membrane antigen, adipophilin, Ki-67, and p53), and Mayo MTS risk scores. All atypical sebaceous neoplasms and 67% of adenomas were MMR-deficient, most commonly concurrent MSH2/MSH6 loss, versus none in sebaceomas (P = .013). Atypical neoplasms also shared other key clinicopathologic features with adenomas, including ulceration, lobular/papillary growth, high proliferation, and strong epithelial membrane antigen expression, but differed from sebaceomas (all P <.05). Six patients had personal or family histories of visceral malignancy, and 4 had a Mayo score ≥2. Ocular sebaceous neoplasms showed a relatively high rate of MMR deficiency. Lobular/papillary sebaceous adenomas and atypical neoplasms were frequently MMR-deficient and may carry implications for MTS, whereas organoid-pattern sebaceomas were typically MMR-proficient and showed no clinical evidence of MTS. Moreover, atypical sebaceous neoplasms, which are intermediate-grade and MMR deficiency-associated, may be classified separately from sebaceomas.

#4

The role of Mohs surgery in the management of benign sebaceous neoplasms.

SAGE open medical case reports2026

Sebaceoma is a benign sebaceous neoplasm with rare potential for malignant transformation. We report a case of recurrent sebaceoma in a 70-year-old male with Muir-Torre syndrome, successfully treated with Mohs micrographic surgery. Despite its benign histology, the lesion demonstrated rapid growth and incomplete initial excision. Mohs micrographic surgery provided complete margin control with tissue preservation. This case highlights the value of Mohs micrographic surgery in managing select benign sebaceous neoplasms exhibiting concerning clinical behavior or diagnostic uncertainty, supporting its inclusion in treatment considerations for high-risk patients.

#5

Diagnostic Accuracy of Immunohistochemistry Testing on Sebaceous Gland Neoplasms for Muir-Torre Syndrome: A Meta-Analysis.

Journal of cutaneous pathology2026 Mar

Muir-Torre syndrome (MTS) is a hereditary tumor predisposition syndrome associated with sebaceous neoplasms. Immunohistochemistry (IHC) for loss of mismatch repair (MMR) proteins in these tumors is used as a screening test, but its diagnostic accuracy has not been rigorously assessed. We conducted a meta-analysis of 25 studies involving 692 patients who underwent IHC testing for MMR protein loss in sebaceous neoplasms. The pooled sensitivity was 0.84 (95% CI: 0.75-0.90) and specificity was 0.46 (95% CI: 0.28-0.66), with significant inter-study heterogeneity in specificity (I 2, 77%). Restricting the meta-analysis to more rigorous studies with exposure-based designs and germline mutation as the reference standard yielded higher sensitivity (0.91; 95% CI: 0.83-0.96) and lower specificity (0.14; 95% CI: 0.06-0.27). Hypothetically restricting testing to patients under 60 years or tumors outside the head/neck locations increased specificity (0.87 and 0.88, respectively) but reduced sensitivity (0.60 and 0.37, respectively). A two-antibody panel (MSH6 and PMS2) performed equivalently to a four-antibody panel (MLH1, MSH2, MSH6, and PMS2). IHC testing can discriminate between sporadic and MTS-associated sebaceous neoplasms, but diagnostic utility is limited by low specificity. Most MMR-deficient cases are not due to MTS.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC312 artigos no totalmostrando 193

2026

Muir-Torre Syndrome: A Rare Case Report and Review of Literature.

Clinical, cosmetic and investigational dermatology
2026

Mismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.

American journal of ophthalmology
2026

[Sebaceoma of the eyelid in a patient with Lynch syndrome revealing Muir-Torre syndrome].

Journal francais d'ophtalmologie
2026

Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome.

JID innovations : skin science from molecules to population health
2026

The role of Mohs surgery in the management of benign sebaceous neoplasms.

SAGE open medical case reports
2025

Human papilloma virus infection and mismatch repair protein expression in sebaceous neoplasms of the genital area.

Histopathology
2025

Reticulated acanthoma with sebaceous differentiation: A case report.

Medicine
2026

Diagnostic Accuracy of Immunohistochemistry Testing on Sebaceous Gland Neoplasms for Muir-Torre Syndrome: A Meta-Analysis.

Journal of cutaneous pathology
2026

A Meta-Analysis of the Prevalence of Mismatch Repair Germline Mutations in Patients With Sebaceous Neoplasms: Are We Missing an Opportunity for Lynch Syndrome Detection?

The Australasian journal of dermatology
2026

Impact of clinical factors and surgical treatments on sebaceous carcinoma patients with and without Muir-Torre syndrome.

Journal of the American Academy of Dermatology
2025

Muir-Torre syndrome revealed by sebaceous carcinoma of the scrotum.

Annales de dermatologie et de venereologie
2025

Extraocular Sebaceous Carcinoma in Lynch Syndrome: A Sentinel Cutaneous Clue to Muir-Torre Syndrome.

Cureus
2025

Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.

International journal of molecular sciences
2025

A case report of Muir-Torre syndrome (MTS) in a Chinese patient.

BMC ophthalmology
2025

Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation.

Familial cancer
2025

Sebaceous carcinoma presenting as chronic chalazion.

BMJ case reports
2025

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

Cancers
2025

Sebaceous Carcinoma as a Presentation of Muir-Torre Syndrome.

Cureus
2024

[A Case of Lynch Syndrome with Muir-Torre Syndrome].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2025

Sebaceous carcinoma in immunosuppressed patients: a narrative review.

Archives of dermatological research
2025

Overall drivers of mortality in sebaceous carcinoma patients with and without Muir-Torre syndrome: A population-based analysis.

Journal of the American Academy of Dermatology
2025

Aggressive Sebaceous Gland Hyperplasia in a Young Girl With MSH2 Gene Mutation: A Rare Presentation.

Ophthalmic plastic and reconstructive surgery
2024

A novel lynch syndrome kindred with hereditary adrenal cortical carcinoma.

Cancer genetics
2025

MSH2-Mutated Lynch Syndrome With 9 Synchronous Colon and Rectum Adenocarcinomas: An Extremely Rare Case Report.

International journal of surgical pathology
2024

Skin as a Reflection of Gut Health: An Overview of Dermatological Manifestations in Primary Neoplastic and Autoimmune Gastrointestinal Disorders.

Cureus
2024

[Sebaceous gland carcinoma of the eyelid co-occurred with other tumors: a report of four cases].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2024

Multiple Eruptive Sebaceous Hyperplasia Secondary to Muir-Torre Syndrome Treated With Fractional Carbon Dioxide Laser Resurfacing Technique: A Case Report.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
2024

Acitretin chemoprophylaxis in Muir-Torre syndrome: A case report with longitudinal follow-up.

JAAD case reports
2024

Muir-Torre Syndrome: A Case Report and a Literature Review of Genetic Insights and Cancer Surveillance.

Cureus
2024

[Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].

Zhonghua yi xue za zhi
2024

Muir-Torre syndrome in Fitzpatrick skin phototype V assessed by dermoscopy and reflectance confocal microscopy.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
2024

Minimally Invasive Plasma Device Management of Multiple Benign Skin Cancers Associated with Rare Genodermatoses-Case Series and Review of the Therapeutic Methods.

Journal of clinical medicine
2024

A case of Muir-Torre syndrome on [18F]FDG PET/CT.

Nuclear medicine review. Central &amp; Eastern Europe
2024

Skin cancer-associated genodermatoses in skin of color patients: a review.

Archives of dermatological research
2024

Patients with a new-onset cutaneous sebaceous neoplasm following immunosuppression should be evaluated for Muir-Torre syndrome with germline mismatch repair gene mutation analysis: case reports.

Dermatology online journal
2024

Atypical Periocular Lesions: Muir-Torre Syndrome.

Ophthalmic plastic and reconstructive surgery
2024

S1-Guideline Sebaceous Carcinoma.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2024

Unusual cystic sebaceous neoplasm prompts cascade testing.

JAAD case reports
2024

Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.

Medicina (Kaunas, Lithuania)
2024

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

Dermatopathology (Basel, Switzerland)
2024

Sebaceous carcinoma in a 54-year-old Black African man after cancer chemotherapy: a case report.

Journal of medical case reports
2024

Androgen Receptor Immunohistochemistry is Superior to PRAME for the Differentiation of Sebaceous Carcinoma From Primary Cutaneous Basaloid Mimics.

The American Journal of dermatopathology
2023

Muir-Torre Syndrome with Novel Mutation in the MSH2 Gene.

Acta dermatovenerologica Croatica : ADC
2024

Expanding the Spectrum of Skin Neoplasms in Muir-Torre Syndrome: Beyond Sebaceous Tumours.

The American Journal of dermatopathology
2024

Recurrent colon cancer in a patient with Muir-Torre syndrome: a case report.

Journal of surgical case reports
2024

Extra-Ocular Sebaceous Carcinoma in Situ of the Arm of an Elder Male: An Unusual Presentation in an Atypical Location.

International journal of surgical pathology
2024

Mosaic Muir Torre Syndrome: Keratoacanthoma as a Piece of the Puzzle.

The American Journal of dermatopathology
2023

Sebaceous Adenoma: A Dermoscopic Case Perspective.

Cureus
2023

Iododerma Mimicking Cutaneous Muir-Torre Syndrome in a Patient with Rectosigmoid Transition Cancer - Case Report.

Indian journal of dermatology
2023

SEBACEOUS CARCINOMA OF THE EYELID AND MUIR-TORRE SYNDROME.

Acta clinica Croatica
2023

HPV-associated vulvar carcinoma with sebaceous differentiation.

Gynecologic oncology reports
2023

Clinical Outcomes in Sebaceous Carcinoma: A Retrospective Two-Center Cohort Study.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2023

A locally advanced colon cancer patient with Muir-Torre syndrome obtains durable response to neoadjuvant and adjuvant immunotherapy.

Tumori
2023

The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening.

Hereditary cancer in clinical practice
2024

Apocrine carcinoma with marked sebocyte-like cytological features: A report of two cases.

Journal of cutaneous pathology
2023

Looking beyond the surface: Muir Torre syndrome.

Archive of clinical cases
2023

Immunohistochemistry, Molecular Biology, and Clinical Scoring for the Detection of Muir-Torre Syndrome in Cutaneous Sebaceous Tumors: Which Strategy?

Dermatology (Basel, Switzerland)
2023

Muir-Torre syndrome and recent updates on screening guidelines: The link between colorectal tumors and sebaceous adenomas in unusual locations.

Journal of surgical oncology
2024

Extraocular cutaneous sebaceous carcinoma in a patient with Muir-Torre syndrome: special emphasis on histologic and dermoscopic features.

Dermatology reports
2023

Sebaceous carcinoma in Western Australia: A registry-based study of site-related outcomes.

The Australasian journal of dermatology
2023

Retinoid use in Muir-Torre syndrome: a forgotten miracle drug.

International journal of dermatology
2023

Sebaceous neoplasms and the Muir-Torre syndrome.

Journal of the American Academy of Dermatology
2023

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Journal of translational medicine
2023

Extraocular sebaceous carcinoma of the chest wall: A case report.

International journal of surgery case reports
2023

Sebaceous carcinoma epidemiology, associated malignancies and Lynch/Muir-Torre syndrome screening in England from 2008 to 2018.

Journal of the American Academy of Dermatology
2023

Comparison of clinicopathologic features, survival, and demographics in sebaceous carcinoma patients with and without Muir-Torre syndrome.

Journal of the American Academy of Dermatology
2023

First-line pembrolizumab plus androgen deprivation therapy for locally advanced microsatellite instability-high prostate cancer in a patient with Muir-Torre syndrome: A case report.

Frontiers in oncology
2023

Germline Testing of Mismatch Repair Genes Is Needed in the Initial Evaluation of Patients With Muir-Torre Syndrome-Associated Cutaneous Sebaceous Neoplasms: A Case Series.

Cureus
2023

Well-concealed advanced duodenal carcinoma with Muir-Torre syndrome: a case report and review of literature.

Surgical case reports
2023

Clinical factors associated with skin neoplasms in individuals with Lynch syndrome in a longitudinal observational cohort.

Journal of the American Academy of Dermatology
2023

The M2 macrophages infiltration of sebaceous tumors is linked to the aggressiveness of tumors but not to the mismatch repair pathway.

Journal of cancer research and clinical oncology
2022

Muir-Torre Syndrome: Abdominal Sebaceous Carcinoma.

Cureus
2023

Muir-Torre Syndrome: A Cutaneous Finding Amidst Broader Malignancies.

American journal of clinical dermatology
2022

An Updated Review of the Therapeutic Management of Keratoacanthomas.

The Journal of clinical and aesthetic dermatology
2022

Strong Hereditary Predispositions to Colorectal Cancer.

Genes
2023

A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions.

Familial cancer
2023

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial cancer
2023

HPV-associated Vulvar Intraepithelial Carcinoma With Sebaceous Differentiation: Report of 2 Cases.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
2022

Breast Carcinoma with a Special Histological Pattern of Sebaceous Differentiation and High-Frequency Microsatellite Instability: A Case Report and Review of the Literature.

Annals of clinical and laboratory science
2022

Cutaneous Sebaceous Carcinoma Presenting as a Large Fungating Breast Tumour in Synchronicity With Primary Carcinomata of the Breasts.

Cureus
2022

Sebaceous Carcinoma of the Face Treated With Mohs Micrographic Surgery.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2022

Extraocular Sebaceous Carcinoma in Muir-Torre Syndrome.

Indian journal of dermatology
2022

Combination treatment of bilateral periocular sebaceous carcinomas with microsatellite instability with neoadjuvant pembrolizumab and Mohs surgery.

The Australasian journal of dermatology
2022

Clinical Features and Prognosis of Young and Middle-Aged Adults With Skin Sebaceous Adenocarcinoma.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2023

An Unexpected Esophageal Lesion in a Patient With Muir-Torre Syndrome.

Gastroenterology
2022

Rare malignant adnexal tumour of the skin involving distal phalanx of right thumb with co-existing primary lung cancer in a 72-year-old patient: A case report.

International journal of surgery case reports
2022

Isotretinoin as chemoprophylaxis for cutaneous malignancies in Muir-Torre syndrome: A novel concept.

Dermatologic therapy
2022

Multiple sebaceous tumors in a 58-year-old man with colorectal cancer.

Clinical case reports
2022

Sebaceous Carcinoma Arising in Ovarian Teratoma: First Report Associated With Germline Mismatch Repair Gene Mutation.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
2022

[Isolated conjunctival sebaceous adenoma associated with acute endophtalmitis].

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia
2022

In Vivo Reflectance Confocal Microscopy of Adnexal Tumors: Evaluation of Trichoepithelioma, Sebaceoma, and Fibrofolliculoma.

The American Journal of dermatopathology
2021

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.

Annals of coloproctology
2022

Keratoacanthoma or cutaneous squamous cell carcinoma revealing a DNA mismatch repair default (Muir-Torre Syndrome).

Journal of the European Academy of Dermatology and Venereology : JEADV
2021

Basal Cell Carcinoma and Sebaceoma Within Nevus Sebaceous of the Scalp.

Cureus
2022

Gastrointestinal polyposis with associated cutaneous manifestations.

Pathology
2022

Muir-Torre syndrome: a case of unusual coexisting genetic mutations.

Clinical and experimental dermatology
2021

Sebaceous Carcinoma Arising From Heterotopic Salivary Gland Tissue in a Patient With Muir-Torre Syndrome.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2021

Giant Aggressive Extraocular Sebaceous Carcinoma: A Case Report.

Clinical, cosmetic and investigational dermatology
2021

Kidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome.

Cureus
2021

Sebaceous adenoma of the conjunctiva and caruncle: a clinicopathological report of three cases and literature review.

Arquivos brasileiros de oftalmologia
2021

Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report.

Hereditary cancer in clinical practice
2021

Case Report: A Frameshift Mutation in MSH2 Exon 2 in a Kidney Recipient With Muir-Torre Syndrome.

Frontiers in oncology
2022

Molecular pathology of skin adnexal tumours.

Histopathology
2021

Idylla MSI test as a new tool for microsatellite instability detection in sebaceous tumours and keratoacanthomas.

Journal of clinical pathology
2021

Extraocular Sebaceous Carcinoma Treated With Mohs Micrographic Surgery-A 24-Year Retrospective Review of Tumor Characteristics and Treatment Outcomes.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2021

Sebaceous carcinoma of the chest wall: A case report.

Radiology case reports
2021

Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.

Genes
2021

Sebaceous tumours: a prototypical class of skin tumour for universal germline genetic testing.

The British journal of dermatology
2021

A Case of Muir-Torre Syndrome.

Cureus
2021

Molecular Genetics of Sebaceous Neoplasia.

Surgical pathology clinics
2021

Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis: Report of a Case and Review of the Literature.

Journal of kidney cancer and VHL
2021

Seborrheic Keratosis With Sebaceous Differentiation, a Series of 8 Cases and Critical Review of the Literature.

The American Journal of dermatopathology
2021

Sebaceous neoplasia leading to the diagnosis of Muir-Torre syndrome in an African American man.

JAAD case reports
2021

[Cancer-associated genodermatoses].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
2021

Cutaneous Squamous Cell Carcinoma in Lynch Syndrome - An Overlooked Association.

Cureus
2021

A case of Muir-Torre syndrome with a keratoacanthoma and sebaceous neoplasms: Clinicopathological features and a speculation on the pathogenesis of cutaneous tumor type.

The Journal of dermatology
2021

Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.

Cancer genetics
2021

Androgen receptor expression in epidermal and adnexal tumours.

Annales de dermatologie et de venereologie
2020

Ambient Ultraviolet Radiation and Sebaceous Carcinoma Incidence in the United States, 2000-2016.

JNCI cancer spectrum
2020

A Case of Simpson-Golabi-Behmel Syndrome Presenting with Cutaneous Findings.

HCA healthcare journal of medicine
2021

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.

European journal of human genetics : EJHG
2021

Case for diagnosis. Verrucous plaque on the pubic region.

Anais brasileiros de dermatologia
2021

Sebaceous Tumors of the Skin: A Study of 145 Lesions From 136 Patients Correlating Pathologic Features and DNA Mismatch Repair Staining Pattern.

The American Journal of dermatopathology
2020

A rare concurrence of Muir-Torre-associated sebaceous carcinoma in the setting of a lipedematous scalp.

Case reports in plastic surgery &amp; hand surgery
2020

Sebaceous Carcinoma Incidence and Survival Among Solid Organ Transplant Recipients in the United States, 1987-2017.

JAMA dermatology
2021

Deceptively Innocent Façade of Sebaceous Carcinoma in Muir-Torre Syndrome.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2020

Sebaceoma of a Meibomian Gland of the Upper Eyelid.

Ocular oncology and pathology
2020

Villous Sebaceous Adenoma Arising from the Caruncular Surface Squamous Epithelium.

Ocular oncology and pathology
2020

Muir-Torre Syndrome Associated Periocular Sebaceous Neoplasms: Screening Patterns in the Literature and in Clinical Practice.

Ocular oncology and pathology
2020

Genetic heterogeneity in a patient with Muir-Torre syndrome.

JAAD case reports
2020

Maintenance Intravenous Immunoglobulin Treatment for Multiple Sclerosis Coexisting with Ehlers-Danlos Syndrome and Muir-Torre Syndrome: A Case Study.

Neurology and therapy
2020

Muir Torre syndrome and in vitro fertilization: One family's experience.

JAAD case reports
2020

Metastatic Prostatic Adenocarcinoma in Patient With Muir-Torre Syndrome Misdiagnosed as Metastatic Sebaceous Carcinoma: Case Report and Systematic Literature Review.

The American Journal of dermatopathology
2020

Immuno-Interception for Patients with High-Risk Cancer.

Cancer prevention research (Philadelphia, Pa.)
2020

The DNA mismatch repair system in sebaceous tumors: an update on the genetics and workup of Muir-Torre syndrome.

Cutis
2020

An Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome.

JAMA dermatology
2020

Cancer Immunoprevention: A Case Report Raising the Possibility of "Immuno-interception".

Cancer prevention research (Philadelphia, Pa.)
2020

Sebaceous neoplasms: Just the thin end of the wedge.

Clinical case reports
2020

Muir-Torre Syndrome With a Frame-shift Mutation in the MSH2 Gene: A Rare Case Report and Literature Review.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
2020

Concomitant Orbital Tumours: Small Lymphocytic Lymphoma Involving the Lacrimal Gland of a Patient with Clinical Diagnoses of Muir-Torre Syndrome and Extensive Sebaceous Gland Carcinoma of the Ipsilateral Eyelid.

Ocular oncology and pathology
2020

Cutaneous sebaceous carcinoma.

The Australasian journal of dermatology
2020

Impact of surgery and adjuvant treatment on the outcome of extraocular sebaceous carcinoma: a systematic review and individual patient's data analysis of 206 cases.

International journal of dermatology
2020

A rare giant extraocular, anterior chest wall sebaceous carcinoma.

International journal of surgery case reports
2020

Update on the pathology, genetics and somatic landscape of sebaceous tumours.

Histopathology
2019

Muir-Torre Syndrome, a Rare Phenotype of Hereditary Nonpolyposis Colorectal Cancer With Cutaneous Manifestations.

ACG case reports journal
2019

Muir-Torre Syndrome: The Importance of a Detailed Family History.

Case reports in ophthalmology
2019

Muir-Torre syndrome: sebaceous carcinoma concurrent with colon cancer in a kidney transplant recipient; a case report.

BMC nephrology
2020

Ocular Adnexal Adenomatoid Sebaceous Gland Hyperplasia: A Clinical and Immunopathologic Analysis in Relation to the Muir-Torre Syndrome.

Ophthalmic plastic and reconstructive surgery
2021

Cutaneous Metastases in a Patient With Muir-Torre Syndrome.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2020

Intraductal sebaceous papilloma of a meibomian gland: a new entity possibly associated with the MSH6 subtype of the Muir-Torre syndrome.

Survey of ophthalmology
2020

Sebaceous carcinoma: controversies and their evidence for clinical practice.

Archives of dermatological research
2019

[Hereditary colon cancer in Lynch syndrome/HNPCC syndrome in Germany].

Der Pathologe
2019

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Familial cancer
2019

Skin Biopsy in the Context of Systemic Disease.

Actas dermo-sifiliograficas
2019

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome.

Molecular genetics &amp; genomic medicine
2019

Muir-Torre Syndrome Presenting as a Sebaceous Carcinoma of the Nasal Ala.

The American surgeon
2019

Muir-Torre syndrome appropriate use criteria: Effect of patient age on appropriate use scores.

Journal of cutaneous pathology
2019

Successful Treatment of Generalized Eruptive Keratoacanthoma of Grzybowski with Acitretin.

Dermatology and therapy
2019

Multiple benign adnexal tumours: Anything but benign.

The Australasian journal of dermatology
2019

Skin Cancer Associated Genodermatoses: A Literature Review.

Acta dermato-venereologica
2019

A squamous cell carcinoma in a young woman with Lynch syndrome.

Familial cancer
2019

Clinico-pathological predictors of mismatch repair deficiency in sebaceous neoplasia: A large case series from a single Australian private pathology service.

The Australasian journal of dermatology
2019

Cutaneous sebaceous tumours and Lynch syndrome: long-term follow-up of 60 patients.

Clinical and experimental dermatology
2018

Sebaceous carcinoma arising within an ovarian mature cystic teratoma: A case report with discussion of clinical management and genetic evaluation.

Gynecologic oncology reports
2018

Sebaceous Carcinoma in Situ Masquerading Clinically and Histologically as Paget Disease of the Breast.

South Dakota medicine : the journal of the South Dakota State Medical Association
2018

Lynch syndrome - Muir-Torre variant: implication in gynecologic oncology.

Journal of gynecologic oncology
2019

Muir-Torre Syndrome: A Case Report in a Woman Without Personal Cancer History.

The American Journal of dermatopathology
2018

Sebaceous Neoplasms With Rippled, Labyrinthine/Sinusoidal, Petaloid, and Carcinoid-Like Patterns: A Study of 57 Cases Validating Their Occurrence as a Morphological Spectrum and Showing No Significant Association With Muir-Torre Syndrome or DNA Mismatch Repair Protein Deficiency.

The American Journal of dermatopathology
2018

Postradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome.

Case reports in pathology
2018

Prevalence and molecular characteristics of DNA mismatch repair protein-deficient sebaceous neoplasms and keratoacanthomas in a Japanese hospital-based population.

Japanese journal of clinical oncology
2019

Impact of Muir-Torre Syndrome on Survival in Patients With Sebaceous Carcinoma: A SEER Population-Based Study.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]
2018

Sebaceous carcinoma of the breast in a patient with a pathogenic BRCA2 (886delGT) mutation - focus on histopathologic and immunohistochemical features.

APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
2018

Cumulative risk of skin tumours in patients with Lynch syndrome.

The British journal of dermatology
2017

Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders.

Dermatology online journal
2018

Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying SETBP1 mutation.

Molecular and clinical oncology
2018

Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.

Clinical and experimental dermatology
2018

Sebaceous tumours: more than skin deep.

Gut
2017

Inherited skin tumour syndromes.

Clinical medicine (London, England)
2017

Sebaceous lesions of the skin.

Pathology
2017

Superficial epithelioma with sebaceous differentiation: a case report with literature review.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica
2017

Analysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome.

Skinmed
2017

Cutaneous Manifestation of Histiocytic Sarcoma: Presentation and Management.

The American surgeon
2017

A possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability.

JAAD case reports
2017

Review of the current medical literature and assessment of current utilization patterns regarding mismatch repair protein immunohistochemistry in cutaneous Muir-Torre syndrome-associated neoplasms.

Journal of cutaneous pathology
2017

Sebaceoma associated with seborrheic keratosis.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2017

Sebaceous Carcinoma: A Review of the Scientific Literature.

Current treatment options in oncology
2017

Multiple asymptomatic papules on the face and thorax.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
2017

Mutation analysis of CTNNB1 gene and the ras pathway genes KRAS, NRAS, BRAF, and PIK3CA in eyelid sebaceous carcinomas.

Pathology, research and practice
2017

Usefulness of PET/CT for early detection of internal malignancies in patients with Muir-Torre syndrome: report of two cases.

Surgical case reports
2017

A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.

Hereditary cancer in clinical practice
2017

Early gastric adenocarcinoma arising within foveolar-type dysplasia in a patient with Muir-Torre variant Lynch syndrome.

Virchows Archiv : an international journal of pathology
2017

Case of reticulated acanthoma with sebaceous differentiation with clinicopathological surveillance.

The Journal of dermatology
2017

Sebaceous Carcinomas of the Skin: 24 Cases and a Literature Review.

Acta dermato-venereologica
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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome.
    JID innovations : skin science from molecules to population health· 2026· PMID 41551037mais citado
  2. Muir-Torre Syndrome: A Rare Case Report and Review of Literature.
    Clinical, cosmetic and investigational dermatology· 2026· PMID 41835964mais citado
  3. Mismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.
    American journal of ophthalmology· 2026· PMID 41720232mais citado
  4. The role of Mohs surgery in the management of benign sebaceous neoplasms.
    SAGE open medical case reports· 2026· PMID 41527577mais citado
  5. Diagnostic Accuracy of Immunohistochemistry Testing on Sebaceous Gland Neoplasms for Muir-Torre Syndrome: A Meta-Analysis.
    Journal of cutaneous pathology· 2026· PMID 41307363mais citado
  6. [Sebaceoma of the eyelid in a patient with Lynch syndrome revealing Muir-Torre syndrome].
    J Fr Ophtalmol· 2026· PMID 41638986recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:587(Orphanet)
  2. OMIM OMIM:158320(OMIM)
  3. MONDO:0008018(MONDO)
  4. GARD:6821(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q827497(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

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