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.
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.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição.
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
NucleusChromosome
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.
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
NucleusChromosome
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.
Variantes genéticas (ClinVar)
8,329 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 611 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Muir-Torre
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
7 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome.
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.
Muir-Torre Syndrome: A Rare Case Report and Review of Literature.
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.
Mismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.
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.
The role of Mohs surgery in the management of benign sebaceous neoplasms.
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.
Diagnostic Accuracy of Immunohistochemistry Testing on Sebaceous Gland Neoplasms for Muir-Torre Syndrome: A Meta-Analysis.
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
Muir-Torre Syndrome: A Rare Case Report and Review of Literature.
Mismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.
[Sebaceoma of the eyelid in a patient with Lynch syndrome revealing Muir-Torre syndrome].
Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome.
The role of Mohs surgery in the management of benign sebaceous neoplasms.
📚 EuropePMC312 artigos no totalmostrando 193
Muir-Torre Syndrome: A Rare Case Report and Review of Literature.
Clinical, cosmetic and investigational dermatologyMismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.
American journal of ophthalmology[Sebaceoma of the eyelid in a patient with Lynch syndrome revealing Muir-Torre syndrome].
Journal francais d'ophtalmologieDeep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome.
JID innovations : skin science from molecules to population healthThe role of Mohs surgery in the management of benign sebaceous neoplasms.
SAGE open medical case reportsHuman papilloma virus infection and mismatch repair protein expression in sebaceous neoplasms of the genital area.
HistopathologyReticulated acanthoma with sebaceous differentiation: A case report.
MedicineDiagnostic Accuracy of Immunohistochemistry Testing on Sebaceous Gland Neoplasms for Muir-Torre Syndrome: A Meta-Analysis.
Journal of cutaneous pathologyA 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 dermatologyImpact of clinical factors and surgical treatments on sebaceous carcinoma patients with and without Muir-Torre syndrome.
Journal of the American Academy of DermatologyMuir-Torre syndrome revealed by sebaceous carcinoma of the scrotum.
Annales de dermatologie et de venereologieExtraocular Sebaceous Carcinoma in Lynch Syndrome: A Sentinel Cutaneous Clue to Muir-Torre Syndrome.
CureusSkin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.
International journal of molecular sciencesA case report of Muir-Torre syndrome (MTS) in a Chinese patient.
BMC ophthalmologyCauses of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation.
Familial cancerSebaceous carcinoma presenting as chronic chalazion.
BMJ case reportsGenetic Drivers in Sebaceous Neoplasms: A Review of Germline and Somatic Mutations and Their Role in Treatment and Management Strategies.
CancersSebaceous Carcinoma as a Presentation of Muir-Torre Syndrome.
Cureus[A Case of Lynch Syndrome with Muir-Torre Syndrome].
Gan to kagaku ryoho. Cancer & chemotherapySebaceous carcinoma in immunosuppressed patients: a narrative review.
Archives of dermatological researchOverall drivers of mortality in sebaceous carcinoma patients with and without Muir-Torre syndrome: A population-based analysis.
Journal of the American Academy of DermatologyAggressive Sebaceous Gland Hyperplasia in a Young Girl With MSH2 Gene Mutation: A Rare Presentation.
Ophthalmic plastic and reconstructive surgeryA novel lynch syndrome kindred with hereditary adrenal cortical carcinoma.
Cancer geneticsMSH2-Mutated Lynch Syndrome With 9 Synchronous Colon and Rectum Adenocarcinomas: An Extremely Rare Case Report.
International journal of surgical pathologySkin as a Reflection of Gut Health: An Overview of Dermatological Manifestations in Primary Neoplastic and Autoimmune Gastrointestinal Disorders.
Cureus[Sebaceous gland carcinoma of the eyelid co-occurred with other tumors: a report of four cases].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyMultiple 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)Acitretin chemoprophylaxis in Muir-Torre syndrome: A case report with longitudinal follow-up.
JAAD case reportsMuir-Torre Syndrome: A Case Report and a Literature Review of Genetic Insights and Cancer Surveillance.
Cureus[Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].
Zhonghua yi xue za zhiMuir-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)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 medicineA case of Muir-Torre syndrome on [18F]FDG PET/CT.
Nuclear medicine review. Central & Eastern EuropeSkin cancer-associated genodermatoses in skin of color patients: a review.
Archives of dermatological researchPatients 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 journalAtypical Periocular Lesions: Muir-Torre Syndrome.
Ophthalmic plastic and reconstructive surgeryS1-Guideline Sebaceous Carcinoma.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGUnusual cystic sebaceous neoplasm prompts cascade testing.
JAAD case reportsMultiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.
Medicina (Kaunas, Lithuania)Sebaceomas in a Muir-Torre-like Phenotype in a Patient with MUTYH-Associated Polyposis.
Dermatopathology (Basel, Switzerland)Sebaceous carcinoma in a 54-year-old Black African man after cancer chemotherapy: a case report.
Journal of medical case reportsAndrogen Receptor Immunohistochemistry is Superior to PRAME for the Differentiation of Sebaceous Carcinoma From Primary Cutaneous Basaloid Mimics.
The American Journal of dermatopathologyMuir-Torre Syndrome with Novel Mutation in the MSH2 Gene.
Acta dermatovenerologica Croatica : ADCExpanding the Spectrum of Skin Neoplasms in Muir-Torre Syndrome: Beyond Sebaceous Tumours.
The American Journal of dermatopathologyRecurrent colon cancer in a patient with Muir-Torre syndrome: a case report.
Journal of surgical case reportsExtra-Ocular Sebaceous Carcinoma in Situ of the Arm of an Elder Male: An Unusual Presentation in an Atypical Location.
International journal of surgical pathologyMosaic Muir Torre Syndrome: Keratoacanthoma as a Piece of the Puzzle.
The American Journal of dermatopathologySebaceous Adenoma: A Dermoscopic Case Perspective.
CureusIododerma Mimicking Cutaneous Muir-Torre Syndrome in a Patient with Rectosigmoid Transition Cancer - Case Report.
Indian journal of dermatologySEBACEOUS CARCINOMA OF THE EYELID AND MUIR-TORRE SYNDROME.
Acta clinica CroaticaHPV-associated vulvar carcinoma with sebaceous differentiation.
Gynecologic oncology reportsClinical Outcomes in Sebaceous Carcinoma: A Retrospective Two-Center Cohort Study.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]A locally advanced colon cancer patient with Muir-Torre syndrome obtains durable response to neoadjuvant and adjuvant immunotherapy.
TumoriThe prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening.
Hereditary cancer in clinical practiceApocrine carcinoma with marked sebocyte-like cytological features: A report of two cases.
Journal of cutaneous pathologyLooking beyond the surface: Muir Torre syndrome.
Archive of clinical casesImmunohistochemistry, Molecular Biology, and Clinical Scoring for the Detection of Muir-Torre Syndrome in Cutaneous Sebaceous Tumors: Which Strategy?
Dermatology (Basel, Switzerland)Muir-Torre syndrome and recent updates on screening guidelines: The link between colorectal tumors and sebaceous adenomas in unusual locations.
Journal of surgical oncologyExtraocular cutaneous sebaceous carcinoma in a patient with Muir-Torre syndrome: special emphasis on histologic and dermoscopic features.
Dermatology reportsSebaceous carcinoma in Western Australia: A registry-based study of site-related outcomes.
The Australasian journal of dermatologyRetinoid use in Muir-Torre syndrome: a forgotten miracle drug.
International journal of dermatologySebaceous neoplasms and the Muir-Torre syndrome.
Journal of the American Academy of DermatologyA tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Journal of translational medicineExtraocular sebaceous carcinoma of the chest wall: A case report.
International journal of surgery case reportsSebaceous carcinoma epidemiology, associated malignancies and Lynch/Muir-Torre syndrome screening in England from 2008 to 2018.
Journal of the American Academy of DermatologyComparison of clinicopathologic features, survival, and demographics in sebaceous carcinoma patients with and without Muir-Torre syndrome.
Journal of the American Academy of DermatologyFirst-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 oncologyGermline Testing of Mismatch Repair Genes Is Needed in the Initial Evaluation of Patients With Muir-Torre Syndrome-Associated Cutaneous Sebaceous Neoplasms: A Case Series.
CureusWell-concealed advanced duodenal carcinoma with Muir-Torre syndrome: a case report and review of literature.
Surgical case reportsClinical factors associated with skin neoplasms in individuals with Lynch syndrome in a longitudinal observational cohort.
Journal of the American Academy of DermatologyThe 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 oncologyMuir-Torre Syndrome: Abdominal Sebaceous Carcinoma.
CureusMuir-Torre Syndrome: A Cutaneous Finding Amidst Broader Malignancies.
American journal of clinical dermatologyAn Updated Review of the Therapeutic Management of Keratoacanthomas.
The Journal of clinical and aesthetic dermatologyStrong Hereditary Predispositions to Colorectal Cancer.
GenesA retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions.
Familial cancerCharacterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
Familial cancerHPV-associated Vulvar Intraepithelial Carcinoma With Sebaceous Differentiation: Report of 2 Cases.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsBreast 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 scienceCutaneous Sebaceous Carcinoma Presenting as a Large Fungating Breast Tumour in Synchronicity With Primary Carcinomata of the Breasts.
CureusSebaceous Carcinoma of the Face Treated With Mohs Micrographic Surgery.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Extraocular Sebaceous Carcinoma in Muir-Torre Syndrome.
Indian journal of dermatologyCombination treatment of bilateral periocular sebaceous carcinomas with microsatellite instability with neoadjuvant pembrolizumab and Mohs surgery.
The Australasian journal of dermatologyClinical 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.]An Unexpected Esophageal Lesion in a Patient With Muir-Torre Syndrome.
GastroenterologyRare 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 reportsIsotretinoin as chemoprophylaxis for cutaneous malignancies in Muir-Torre syndrome: A novel concept.
Dermatologic therapyMultiple sebaceous tumors in a 58-year-old man with colorectal cancer.
Clinical case reportsSebaceous 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[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 CitologiaIn Vivo Reflectance Confocal Microscopy of Adnexal Tumors: Evaluation of Trichoepithelioma, Sebaceoma, and Fibrofolliculoma.
The American Journal of dermatopathologyGenotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.
Annals of coloproctologyKeratoacanthoma or cutaneous squamous cell carcinoma revealing a DNA mismatch repair default (Muir-Torre Syndrome).
Journal of the European Academy of Dermatology and Venereology : JEADVBasal Cell Carcinoma and Sebaceoma Within Nevus Sebaceous of the Scalp.
CureusGastrointestinal polyposis with associated cutaneous manifestations.
PathologyMuir-Torre syndrome: a case of unusual coexisting genetic mutations.
Clinical and experimental dermatologySebaceous 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.]Giant Aggressive Extraocular Sebaceous Carcinoma: A Case Report.
Clinical, cosmetic and investigational dermatologyKidney Transplant Recipient With Multiple Contemporaneous Malignancies Secondary to Muir-Torre Syndrome.
CureusSebaceous adenoma of the conjunctiva and caruncle: a clinicopathological report of three cases and literature review.
Arquivos brasileiros de oftalmologiaMyxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report.
Hereditary cancer in clinical practiceCase Report: A Frameshift Mutation in MSH2 Exon 2 in a Kidney Recipient With Muir-Torre Syndrome.
Frontiers in oncologyMolecular pathology of skin adnexal tumours.
HistopathologyIdylla MSI test as a new tool for microsatellite instability detection in sebaceous tumours and keratoacanthomas.
Journal of clinical pathologyExtraocular 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.]Sebaceous carcinoma of the chest wall: A case report.
Radiology case reportsClinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.
GenesSebaceous tumours: a prototypical class of skin tumour for universal germline genetic testing.
The British journal of dermatologyA Case of Muir-Torre Syndrome.
CureusMolecular Genetics of Sebaceous Neoplasia.
Surgical pathology clinicsPapillary 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 VHLSeborrheic Keratosis With Sebaceous Differentiation, a Series of 8 Cases and Critical Review of the Literature.
The American Journal of dermatopathologySebaceous neoplasia leading to the diagnosis of Muir-Torre syndrome in an African American man.
JAAD case reports[Cancer-associated genodermatoses].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebieteCutaneous Squamous Cell Carcinoma in Lynch Syndrome - An Overlooked Association.
CureusA 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 dermatologyLynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.
Cancer geneticsAndrogen receptor expression in epidermal and adnexal tumours.
Annales de dermatologie et de venereologieAmbient Ultraviolet Radiation and Sebaceous Carcinoma Incidence in the United States, 2000-2016.
JNCI cancer spectrumA Case of Simpson-Golabi-Behmel Syndrome Presenting with Cutaneous Findings.
HCA healthcare journal of medicineIn cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.
European journal of human genetics : EJHGCase for diagnosis. Verrucous plaque on the pubic region.
Anais brasileiros de dermatologiaSebaceous 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 dermatopathologyA rare concurrence of Muir-Torre-associated sebaceous carcinoma in the setting of a lipedematous scalp.
Case reports in plastic surgery & hand surgerySebaceous Carcinoma Incidence and Survival Among Solid Organ Transplant Recipients in the United States, 1987-2017.
JAMA dermatologyDeceptively Innocent Façade of Sebaceous Carcinoma in Muir-Torre Syndrome.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Sebaceoma of a Meibomian Gland of the Upper Eyelid.
Ocular oncology and pathologyVillous Sebaceous Adenoma Arising from the Caruncular Surface Squamous Epithelium.
Ocular oncology and pathologyMuir-Torre Syndrome Associated Periocular Sebaceous Neoplasms: Screening Patterns in the Literature and in Clinical Practice.
Ocular oncology and pathologyGenetic heterogeneity in a patient with Muir-Torre syndrome.
JAAD case reportsMaintenance Intravenous Immunoglobulin Treatment for Multiple Sclerosis Coexisting with Ehlers-Danlos Syndrome and Muir-Torre Syndrome: A Case Study.
Neurology and therapyMuir Torre syndrome and in vitro fertilization: One family's experience.
JAAD case reportsMetastatic Prostatic Adenocarcinoma in Patient With Muir-Torre Syndrome Misdiagnosed as Metastatic Sebaceous Carcinoma: Case Report and Systematic Literature Review.
The American Journal of dermatopathologyImmuno-Interception for Patients with High-Risk Cancer.
Cancer prevention research (Philadelphia, Pa.)The DNA mismatch repair system in sebaceous tumors: an update on the genetics and workup of Muir-Torre syndrome.
CutisAn Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome.
JAMA dermatologyCancer Immunoprevention: A Case Report Raising the Possibility of "Immuno-interception".
Cancer prevention research (Philadelphia, Pa.)Sebaceous neoplasms: Just the thin end of the wedge.
Clinical case reportsMuir-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 PathologistsConcomitant 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 pathologyCutaneous sebaceous carcinoma.
The Australasian journal of dermatologyImpact 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 dermatologyA rare giant extraocular, anterior chest wall sebaceous carcinoma.
International journal of surgery case reportsUpdate on the pathology, genetics and somatic landscape of sebaceous tumours.
HistopathologyMuir-Torre Syndrome, a Rare Phenotype of Hereditary Nonpolyposis Colorectal Cancer With Cutaneous Manifestations.
ACG case reports journalMuir-Torre Syndrome: The Importance of a Detailed Family History.
Case reports in ophthalmologyMuir-Torre syndrome: sebaceous carcinoma concurrent with colon cancer in a kidney transplant recipient; a case report.
BMC nephrologyOcular Adnexal Adenomatoid Sebaceous Gland Hyperplasia: A Clinical and Immunopathologic Analysis in Relation to the Muir-Torre Syndrome.
Ophthalmic plastic and reconstructive surgeryCutaneous Metastases in a Patient With Muir-Torre Syndrome.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]Intraductal sebaceous papilloma of a meibomian gland: a new entity possibly associated with the MSH6 subtype of the Muir-Torre syndrome.
Survey of ophthalmologySebaceous carcinoma: controversies and their evidence for clinical practice.
Archives of dermatological research[Hereditary colon cancer in Lynch syndrome/HNPCC syndrome in Germany].
Der PathologeLynch syndrome with exclusive skin involvement: time to consider a molecular definition?
Familial cancerSkin Biopsy in the Context of Systemic Disease.
Actas dermo-sifiliograficasTumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome.
Molecular genetics & genomic medicineMuir-Torre Syndrome Presenting as a Sebaceous Carcinoma of the Nasal Ala.
The American surgeonMuir-Torre syndrome appropriate use criteria: Effect of patient age on appropriate use scores.
Journal of cutaneous pathologySuccessful Treatment of Generalized Eruptive Keratoacanthoma of Grzybowski with Acitretin.
Dermatology and therapyMultiple benign adnexal tumours: Anything but benign.
The Australasian journal of dermatologySkin Cancer Associated Genodermatoses: A Literature Review.
Acta dermato-venereologicaA squamous cell carcinoma in a young woman with Lynch syndrome.
Familial cancerClinico-pathological predictors of mismatch repair deficiency in sebaceous neoplasia: A large case series from a single Australian private pathology service.
The Australasian journal of dermatologyCutaneous sebaceous tumours and Lynch syndrome: long-term follow-up of 60 patients.
Clinical and experimental dermatologySebaceous carcinoma arising within an ovarian mature cystic teratoma: A case report with discussion of clinical management and genetic evaluation.
Gynecologic oncology reportsSebaceous Carcinoma in Situ Masquerading Clinically and Histologically as Paget Disease of the Breast.
South Dakota medicine : the journal of the South Dakota State Medical AssociationLynch syndrome - Muir-Torre variant: implication in gynecologic oncology.
Journal of gynecologic oncologyMuir-Torre Syndrome: A Case Report in a Woman Without Personal Cancer History.
The American Journal of dermatopathologySebaceous 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 dermatopathologyPostradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome.
Case reports in pathologyPrevalence and molecular characteristics of DNA mismatch repair protein-deficient sebaceous neoplasms and keratoacanthomas in a Japanese hospital-based population.
Japanese journal of clinical oncologyImpact 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.]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 ScandinavicaCumulative risk of skin tumours in patients with Lynch syndrome.
The British journal of dermatologyLynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders.
Dermatology online journalTherapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying SETBP1 mutation.
Molecular and clinical oncologyEvaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.
Clinical and experimental dermatologySebaceous tumours: more than skin deep.
GutInherited skin tumour syndromes.
Clinical medicine (London, England)Sebaceous lesions of the skin.
PathologySuperficial epithelioma with sebaceous differentiation: a case report with literature review.
Acta dermatovenerologica Alpina, Pannonica, et AdriaticaAnalysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome.
SkinmedCutaneous Manifestation of Histiocytic Sarcoma: Presentation and Management.
The American surgeonA possible association between mycosis fungoides and Muir-Torre syndrome: Two disorders with microsatellite instability.
JAAD case reportsReview 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 pathologySebaceoma associated with seborrheic keratosis.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieSebaceous Carcinoma: A Review of the Scientific Literature.
Current treatment options in oncologyMultiple asymptomatic papules on the face and thorax.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGMutation analysis of CTNNB1 gene and the ras pathway genes KRAS, NRAS, BRAF, and PIK3CA in eyelid sebaceous carcinomas.
Pathology, research and practiceUsefulness of PET/CT for early detection of internal malignancies in patients with Muir-Torre syndrome: report of two cases.
Surgical case reportsA case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.
Hereditary cancer in clinical practiceEarly gastric adenocarcinoma arising within foveolar-type dysplasia in a patient with Muir-Torre variant Lynch syndrome.
Virchows Archiv : an international journal of pathologyCase of reticulated acanthoma with sebaceous differentiation with clinicopathological surveillance.
The Journal of dermatologySebaceous Carcinomas of the Skin: 24 Cases and a Literature Review.
Acta dermato-venereologicaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome.
- Muir-Torre Syndrome: A Rare Case Report and Review of Literature.
- Mismatch Repair Deficiency in Benign and Atypical Ocular Sebaceous Neoplasms: Implications for Muir-Torre Screening and Classification.
- The role of Mohs surgery in the management of benign sebaceous neoplasms.
- Diagnostic Accuracy of Immunohistochemistry Testing on Sebaceous Gland Neoplasms for Muir-Torre Syndrome: A Meta-Analysis.
- [Sebaceoma of the eyelid in a patient with Lynch syndrome revealing Muir-Torre syndrome].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:587(Orphanet)
- OMIM OMIM:158320(OMIM)
- MONDO:0008018(MONDO)
- GARD:6821(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
