516 results match your criteria Muir-Torre Syndrome


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.

Int J Surg Case Rep 2022 Jun 10;95:107174. Epub 2022 May 10.

Department of General Surgery, Mata Chanan Devi Hospital, New Delhi, India.

Introduction And Importance: Malignant adnexal tumours of the skin are a group of rare malignancies. These tumours can further differentiate into eccrine, apocrine, sebaceous, sweat duct, or ceruminous glands within the skin or follicular cells. Sebaceous carcinoma, a malignant adnexal tumour of the skin, is a rare and malignant tumour of the sebaceous glands. Read More

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

Dermatol Ther 2022 Apr 28:e15540. Epub 2022 Apr 28.

Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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

Clin Case Rep 2022 Mar 6;10(3):e05537. Epub 2022 Mar 6.

Dermatology Department Farhat Hached University Hospital of Sousse Sousse Tunisia.

The Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of sebaceous neoplasia and internal malignancies and caused by mutations in the mismatch repair gene. We describe the case of 58-year-old man who, over the course of several years, had multiple skin lesions and colon cancer. The syndrome was diagnosed using Sanger sequencing, which allowed us to find the causative mutation. Read More

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

Int J Gynecol Pathol 2021 Dec 1. Epub 2021 Dec 1.

Departments of Pathology.

Sebaceous carcinoma is an uncommon primary cutaneous neoplasm which may be associated with mismatch repair (MMR) abnormalities and sometimes with Muir-Torre syndrome. These neoplasms rarely arise in the ovary within a teratoma/ dermoid cyst. We report a sebaceous carcinoma arising in an ovarian teratoma in a 49-yr old (the 14th case reported in the literature) which exhibited loss of expression of MMR proteins MSH2 and MSH6. Read More

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December 2021

[Isolated conjunctival sebaceous adenoma associated with acute endophtalmitis].

Rev Esp Patol 2022 Jan-Mar;55(1):68-72. Epub 2019 Mar 16.

Servicio de Anatomía Patológica, Hospital Universitario Dexeus, Barcelona, España.

Sebaceous adenoma of the conjunctiva is a very rare lesion of uncertain origin. It is usually associated with Muir-Torre syndrome in which neoplasms are also found in other parts of the body. We present the case of a 71-year-old man without a previous or family history of neoplasia, who presented with severe inflammation and an infection in his right eye associated with a tumor of the conjunctiva near the caruncle. Read More

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

Am J Dermatopathol 2022 Mar;44(3):190-195

Department of Dermatology, University of São Paulo, São Paulo, Brazil.

Abstract: Cutaneous adnexal tumors are benign and malignant neoplasms that undergo morphological differentiation into cutaneous adnexa, comprising pilosebaceous, eccrine, or apocrine units. Reflectance confocal microscopy is a noninvasive diagnostic method that enables in vivo visualization of tissues at a similar resolution as conventional histopathology. The use of this method in skin imaging over the past several years has improved dermatological diagnoses, potentiating its wide application, especially for benign and malignant skin tumors. Read More

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Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.

Ann Coloproctol 2021 Dec 22;37(6):368-381. Epub 2021 Dec 22.

Cancer and Immunogenetics Laboratory, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.

The genomic causes and clinical manifestations of hereditary colorectal cancer (HCRC) might be stratified into 2 groups, namely, familial (FCRC) and a limited sense of HCRC, respectively. Otherwise, FCRC is canonically classified into 2 major categories; Lynch syndrome (LS) or associated spectra and inherited polyposis syndrome. By contrast, despite an increasing body of genotypic and phenotypic traits, some FCRC cannot be clearly differentiated as definitively single type, and the situation has become more complex as additional causative genes have been discovered. Read More

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December 2021

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

J Eur Acad Dermatol Venereol 2022 Jan;36 Suppl 1:74-76

Dermatology Service, Department of Medicine, Gustave Roussy, Villejuif, France.

Keratoacanthoma (KA) and well-differentiated cutaneous squamous cell carcinoma (cSCC) are hardly distinguishable clinically and histologically. They both can be seen in patients with hereditary non-polyposis colorectal cancer (HNPCC) or Lynch Syndrome, corresponding to DNA microsatellite instability. In our case, a young man had the excision of two rapidly growing skin tumours for which distinction between KA and cSCC was initially clinically and pathologically challenging. Read More

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January 2022

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

Cureus 2021 Oct 9;13(10):e18632. Epub 2021 Oct 9.

Pathology, University Hospitals Cleveland Medical Center, Cleveland, USA.

This case describes the occurrence of basal cell carcinoma (BCC) and sebaceoma within a nevus sebaceous (NV), which has not yet been previously reported. This is significant to dermatologists as it emphasizes the importance of close monitoring of benign sebaceous nevi in the event that malignant transformation occurs, although such occurrences are rare. Prompt consideration for prophylactic excision of NS is warranted prior to malignant transformation. Read More

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October 2021

Gastrointestinal polyposis with associated cutaneous manifestations.

Pathology 2022 Mar 9;54(2):157-166. Epub 2021 Nov 9.

Department of Pathology, Jackson Memorial Hospital/University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address:

Cutaneous findings are commonly associated with underlying gastrointestinal disorders and, in many instances, may be the first manifestation. Many such syndromes have incomplete penetrance and variable expressivity, making them difficult to recognise. Skin manifestations may be an easily recognised feature of the underlying disorder. Read More

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

Clin Exp Dermatol 2022 Mar 7;47(3):602-604. Epub 2021 Dec 7.

Department of Dermatology, St Vincent's University Hospital, Dublin, Ireland.

Patients with Muir-Torre syndrome (MTS) commonly have germline mismatch repair mutations in MLH1, MSH2 or MSH6, with a strong predominance in MSH2. A subset of approximately one-third of patients will instead have an autosomal recessive base excision repair mutation in MUTYH called MUTYH polyposis. To the best of our knowledge, this is the first report of coexisting germline MSH2 and MUTYH mutations in a patient with MTS. Read More

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

Dermatol Surg 2021 12;47(12):1659-1660

Department of Dermatology, Keck School of Medicine of University of Southern California, Los Angeles, California.

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December 2021

Giant Aggressive Extraocular Sebaceous Carcinoma: A Case Report.

Clin Cosmet Investig Dermatol 2021 24;14:1351-1354. Epub 2021 Sep 24.

Department of Dermatology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, People's Republic of China.

Sebaceous carcinoma (SC) is a rare, aggressive malignancy. Most lesions occur in the periocular region, with few cases presenting with extraocular lesions. Here, we report a case of an 89-year-old woman with a 3-month history of a rapidly growing giant extraocular SC. Read More

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September 2021

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

Cureus 2021 Jul 26;13(7):e16642. Epub 2021 Jul 26.

Department of Pathology, King Fahad Specialist Hospital, Dammam, SAU.

Muir-Torre Syndrome (MTS) is a rare autosomal-dominant genetic condition linked to germline mutations in DNA mismatch repair (MMR) genes, resulting in microsatellite instability. It is considered a variant of Lynch syndrome characterized by the association of at least one sebaceous skin tumor and at least one internal malignancy. In addition, it has been shown that a latent phenotype of MTS might be unmasked in transplant organ recipients and immunosuppressed patients. Read More

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

Arq Bras Oftalmol 2021 18;85(2):174-177. Epub 2021 Aug 18.

Ocular Oncology Service, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

Sebaceous tumors of the conjunctiva and caruncle are rare conditions, accounting for 1% of caruncle lesions and even lower among conjunctival lesions. Almost 50% of cases are associated with Muir-Torre syndrome, a rare autosomal-dominant condition characterized by at least one sebaceous skin tumor and one visceral malignancy. We report 3 cases of sebaceous adenoma with different presentations that were submitted to excisional biopsy and immunohistochemical study. Read More

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

Hered Cancer Clin Pract 2021 Aug 21;19(1):34. Epub 2021 Aug 21.

Department of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, 104-0045, Tokyo, Japan.

Background: Muir-Torre syndrome (MTS), which accounts for a small subset (1-3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies. Most families with MTS have pathogenic germline variants (PGV) in MSH2. Sarcomas are not common on the LS tumor spectrum, and sarcomas associated with MTS are extremely rare. Read More

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

Front Oncol 2021 24;11:681780. Epub 2021 Jun 24.

Department of Pathology, Taicang Hospital of Traditional Chinese Medicine, Suzhou, China.

Muir-Torre syndrome (MTS), a rare subtype of Lynch syndrome, is mostly autosomal dominant, which is caused by germline mutations in DNA mismatch repair (MMR) genes, the resulting microsatellite instability (MSI) of which increases the risk of developing sebaceous and other visceral tumors. Several reports have showed an association between immunosuppressive agents and the progression of latent MTS. In this report, we described a 41-year-old man with a history of kidney transplantation, having a rapid growth of the nodule on the anterior chest under immunosuppressive therapy, which was histologically proved to be sebaceous carcinoma. Read More

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Molecular pathology of skin adnexal tumours.

Histopathology 2022 Jan;80(1):166-183

Department of Pathology, University of Michigan, Ann Arbor, MI, USA.

Aims: Tumours of the cutaneous adnexa arise from, or differentiate towards, structures in normal skin such as hair follicles, sweat ducts/glands, sebaceous glands or a combination of these elements. This class of neoplasms includes benign tumours and highly aggressive carcinomas. Adnexal tumours often present as solitary sporadic lesions, but can herald the presence of an inherited tumour syndrome such as Muir-Torre syndrome, Cowden syndrome or CYLD cutaneous syndrome. Read More

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January 2022

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

J Clin Pathol 2021 Jun 29. Epub 2021 Jun 29.

Université Paris-Est Créteil Val de Marne Faculté de médecine, Creteil, France.

Aim: Sebaceous tumours and keratoacanthomas can be associated with mismatch repair (MMR) deficiency and thus microsatellite instability (MSI). In such tumours, MSI phenotype could be an argument to search for an underlying Muir-Torre syndrome (MTS). MTS has been recognised as a variant of Lynch syndrome, characterised by a deficiency of the MMR proteins. Read More

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

Dermatol Surg 2021 09;47(9):1195-1199

Division of Dermatology and Mohs Surgery, Scripps Clinic, La Jolla, California.

Background: Extraocular sebaceous carcinoma (SC) is rare, with distinct features from its ocular counterpart. These neoplasms have been associated with Muir-Torre syndrome (MTS). Associated internal malignancies include gastrointestinal and genitourinary. Read More

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September 2021

Sebaceous carcinoma of the chest wall: A case report.

Radiol Case Rep 2021 Jul 25;16(7):1870-1873. Epub 2021 May 25.

Consultant Breast Surgeon Cambridge University Hospital NHS Trust, Cambridge and Anglia Ruskin School of Medicine, Cambridge, UK.

Sebaceous carcinoma is a rare, malignant tumor of the sebaceous glands. This is a case report of a 75-year-old man who presented with a right lower axillary mass which initially was considered to be a benign sebaceous cyst from sonography. The lesion rapidly changed in clinical and sonographic appearances and on histology was a sebaceous carcinoma. Read More

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

Genes (Basel) 2021 05 20;12(5). Epub 2021 May 20.

Department of Dermatology, University Hospital Zurich, Raemistrasse 100, 8091 Zurich, Switzerland.

Background: We investigated the mutational landscape of skin tumors in patients with Muir-Torre Syndrome (MTS) a hereditary autosomal dominant mismatch repair disorder of increased cancer susceptibility, and examined mutations other than in the DNA mismatch repair (MMR) genes.

Methods: This retrospective single-center case series included seven patients with the diagnosis of Muir-Torre Syndrome with precise medical history and family history. Mutational analysis of tumor samples Formalin-fixed paraffin-embedded tissue blocks of skin lesions associated with Muir-Torre Syndrome were used for further analysis. Read More

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

Br J Dermatol 2021 11 22;185(5):1045-1046. Epub 2021 Jul 22.

Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.

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November 2021

A Case of Muir-Torre Syndrome.

Cureus 2021 Apr 20;13(4):e14582. Epub 2021 Apr 20.

Hematology/Oncology, Henry Ford Health System, Jackson, USA.

Muir-Torre syndrome (MTS) is an autosomal dominant condition characterized by dermatological tumors along with visceral malignancies. The dermatological manifestations include recurrent sebaceous adenomas and keratoacanthomas. The commonly seen visceral malignancies are colorectal, gynecological, and urological. Read More

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Molecular Genetics of Sebaceous Neoplasia.

Authors:
Jeffrey P North

Surg Pathol Clin 2021 Jun;14(2):273-284

Dermatopathology, Department of Dermatology, University of California San Francisco, School of Medicine, 1701 Divisadero Street, Room 280, San Francisco, CA 94115, USA; Department of Pathology, University of California San Francisco, School of Medicine, 1701 Divisadero Street, Room 280, San Francisco, CA 94115, USA. Electronic address:

Sebaceous neoplasia primarily includes sebaceous adenoma, sebaceoma, and sebaceous carcinoma (SC). Sebaceous adenoma, sebaceoma, and a subset of cutaneous SC are frequently associated with defective DNA mismatch repair resulting from mutations in MLH1, MSH2, or MSH6. These tumors can be sporadic or associated with Muir-Torre syndrome. Read More

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

J Kidney Cancer VHL 2021 21;8(2):8-19. Epub 2021 Apr 21.

Department of Pathology & Immunology.

Lynch syndrome (LS) is an autosomal dominant inherited disorder due to pathogenic variations in the mismatch repair genes, which predisposes to malignancies, most commonly colon and endometrial carcinoma. Muir-Torre syndrome is a subset of LS with cutaneous sebaceous adenoma and keratoacanthoma in addition to the malignancies. Renal cell carcinoma (RCC) in patients with LS is extremely rare. Read More

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

Am J Dermatopathol 2021 Nov;43(11):801-810

Dermatopathology Unit, Department of Dermatology, Venereology and Allergology, Medical University Innsbruck, Innsbruck, Austria.

Abstract: Seborrheic keratosis with sebaceous differentiation (SKSD) can sometimes raise uncertainty, confuse with other even malignant entities, and lead to overestimation of this harmless variant. Retrospective analysis of the cases diagnosed as SKSD and a search of the pertaining literature were conducted. Eight cases of SKSD were found. Read More

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November 2021

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

JAAD Case Rep 2021 May 23;11:72-73. Epub 2021 Mar 23.

Division of Dermatology, The Ohio State University Wexner Medical Center, Columbus, Ohio.

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[Cancer-associated genodermatoses].

Hautarzt 2021 Apr 4;72(4):288-294. Epub 2021 Mar 4.

Klinik für Dermatologie und Allergologie, LMU Klinikum, Frauenlobstr. 9-11, 80337, München, Deutschland.

Hereditary tumor syndromes are characterized by a familial occurrence of tumors/cancer. A hereditary tumor syndrome should be suspected if a familial occurrence of cancer is seen and/or persons at younger age are affected. Some of the currently known tumor syndromes are associated with specific skin symptoms that can aid the physician in establishing the correct diagnosis. Read More

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

Cureus 2021 Feb 25;13(2):e13553. Epub 2021 Feb 25.

Internal Medicine, B. J. Medical College, Ahmedabad, IND.

Lynch syndrome is an autosomal dominant disorder caused by germline mutation affecting mismatch-repair genes. Genetic testing is performed selectively. Diagnosed individuals are to undergo surveillance to detect and manage Lynch syndrome-related cancers early in the course. Read More

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February 2021