430 results match your criteria Muir-Torre Syndrome


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

Australas J Dermatol 2018 Dec 2. Epub 2018 Dec 2.

Department of Clinical Pathology, Colorectal Oncogenomics Group, The University of Melbourne, Parkville, Victoria, Australia.

Background/objectives: Loss of expression of mismatch repair (MMR) proteins is frequently observed in sebaceous skin lesions and can be a herald for Lynch syndrome. The aim of this study was to identify clinico-pathological predictors of MMR deficiency in sebaceous neoplasia that could aid dermatologists and pathologists in determining which sebaceous lesions should undergo MMR immunohistochemistry (IHC).

Methods: An audit of sebaceous skin lesions (excluding hyperplasia) where pathologist-initiated MMR IHC was performed between January 2009 to December 2016 was undertaken from a single pathology practice identifying 928 lesions from 882 individuals. Read More

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December 2018
5 Reads

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

Int J Gynecol Pathol 2018 Dec 3. Epub 2018 Dec 3.

Department of Pathology, Wuhan University Zhongnan Hospital, and Wuhan University Center for Pathology and Molecular Diagnostics (Q.C., Z.X., S.T., S.X.) Department of Pathology, Hubei Cancer Hospital (Manxiang W., S.J., Mingwei W.), Wuhan, Hubei Province, China Department of Pathology, University of Chicago, Chicago, Illinois (S.X.).

Muir-Torre syndrome is a rare subtype of Lynch syndrome characterized by coincidence of skin neoplasm and visceral malignancies. Here, we report a case of this rare disease, whose diagnosis of the syndrome was first suspected by the pathologist. This was a 60-yr-old woman who presented with an axillary skin nodule, which was diagnosed as basal cell carcinoma. Read More

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December 2018
5 Reads

Les difficultés du diagnostic : du carcinome basocellulaire aux tumeurs trichoblastiques: From basal cell carcinoma to trichoblastic tumors: a diagnostic challenge.

Authors:
B Cribier

Ann Dermatol Venereol 2018 Nov;145 Suppl 5:VS3-VS11

Clinique dermatologique, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg cedex, France. Electronic address:

Basal cell carcinoma (BCC) is a very common tumor, of which the diagnosis is generally easy. Clinical prediction of histopathological subtype however is however often difficult, i.e. Read More

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November 2018
3 Reads

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

Clin Exp Dermatol 2018 Nov 14. Epub 2018 Nov 14.

Department of Dermatology, Hospital Universitari de Bellvitge, IDIBELL, Universitat de Barcelona, Barcelona, Spain.

Background: Sebaceous neoplasms (SN) may appear sporadically in the general population but may also be part of the Muir-Torre variant of Lynch syndrome (MT-LS). There are few studies in southern Europe on the incidence of MT-LS in the population of patients with SN.

Aim: To retrospectively review patients with SN and to analyse their clinical features and the incidence of MT-LS. Read More

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November 2018

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

Gynecol Oncol Rep 2018 Nov 29;26:37-40. Epub 2018 Aug 29.

Department of Pathology, Cedars-Sinai Medical Center, United States.

Sebaceous carcinomas are rare tumors, with the majority of described cases occurring within the eyelid. To date, there are nine documented reports of sebaceous carcinoma arising within a mature cystic teratoma of the ovary. Although the majority of cases originate from idiopathic mutations, there exists a strong association between this rare tumor and hereditary syndromes of DNA mismatch repair deficiency, such as Lynch syndrome and the lesser-known Muir-Torre syndrome. Read More

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November 2018
5 Reads

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

S D Med 2018 Aug;71(8):350-353

Department of Pathology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.

Sebaceous carcinoma in situ is a poorly understood and ill-defined entity. In situ sebaceous carcinoma exhibits a similar location pattern to its invasive counterpart in that most commonly has a periorbital distribution. Review of the literature found only seven cases of extraocular sebaceous carcinoma in situ. Read More

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August 2018
2 Reads

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

J Gynecol Oncol 2018 Sep;29(5):e84

Department of Gynecologic Oncology, IRCCS National Cancer Institute, Milan, Italy.

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September 2018

[Muir-Torre syndrome].

Ugeskr Laeger 2018 Jul;180(27)

Muir-Torre syndrome (MTS) is an autosomal dominant disease with approximately 200 reported cases worldwide, which is characterised by multiple neoplasms of the skin and internal organs. This is a case report of a 57-year-old woman with MTS, who was referred to a plastic surgery department from a gastroenterology department due to a neoplasm of the skin. After treatment, she was referred to a dermatology department for follow-up. Read More

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July 2018
6 Reads

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

Am J Dermatopathol 2018 Jun 14. Epub 2018 Jun 14.

Departments of Dermatology, and.

We report a case of a 68-year-old white woman presenting with 5 sebaceous neoplasms, ranging from sebaceous adenoma to sebaceoma on histopathology. Despite the lack of a personal cancer history, her multiple sebaceous neoplasms and a paternal history of colon cancer prompted testing her sebaceous adenomas for microsatellite instability (MSI) by immunohistochemistry. The results showed retained nuclear expressions of MLH1 and PMS2 while MSH2 and MSH6 proteins were absent. Read More

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June 2018
6 Reads

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.

Am J Dermatopathol 2018 Jul;40(7):479-485

Department of Pathology, Charles University in Prague, Faculty of Medicine in Pilsen, Pilsen, Czech Republic.

Sebaceous neoplasms with an organoid pattern (rippled, labyrinthine/sinusoidal, carcinoid-like, and petaloid) are rare. Previous studies suggested that the above patterns likely represent variations along a morphological continuum. The objectives of this study were to (1) validate this proposition by studying a large number of cases, (2) determine whether there are specific associations with clinical features, (3) establish their frequency, and (4) determine whether they have any association with Muir-Torre syndrome. Read More

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July 2018
11 Reads

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

Case Rep Pathol 2018 24;2018:5947870. Epub 2018 Apr 24.

Department of Pathology, UAB, Birmingham, AL, USA.

Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant genetic disorder characterized by a predisposition towards colorectal carcinoma and other extracolonic neoplasms. Histiocytic sarcoma (HS) is a very rare hematologic neoplasm characterized by a malignant proliferation of cells with histiocytic differentiation. We present the case of a 62-year-old male with previous diagnosis of MTS who presented with metastatic colorectal adenocarcinoma, bilateral papillary renal cell carcinoma, and a new squamous cell carcinoma of the scalp, treated with resection and adjuvant radiation therapy. Read More

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April 2018
2 Reads

Muir-Torre syndrome.

Rev Clin Esp 2018 May 19. Epub 2018 May 19.

Servicio de Dermatología, Hospital Clínico Universitario de Valladolid, Valladolid, España.

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

Jpn J Clin Oncol 2018 Jun;48(6):514-521

Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University.

Background: Muir-Torre syndrome (MTS) is currently considered as a clinical variant of Lynch syndrome (LS). The clinical significance of the screening of patients with MTS-associated cutaneous tumors for the identification of LS has not yet been established. In addition, the prevalence and molecular characteristics of mismatch repair (MMR) protein deficiency in such tumors has scarcely been investigated in the Japanese population. Read More

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June 2018
10 Reads

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

Dermatol Surg 2018 Mar 23. Epub 2018 Mar 23.

Department of Dermatology Case Western Reserve University School of Medicine, Cleveland, Ohio Department of Dermatology, University Hospitals Cleveland Medical Center, Cleveland, Ohio.

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March 2018
4 Reads

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

APMIS 2018 Apr;126(4):353-356

Department of Pathology, Chicago Medical School, North Chicago, IL, USA.

Sebaceous carcinoma of the breast (SCB) is a rare variant of ductal carcinoma arising within the mammary gland and containing at least 50% of malignant cells with sebaceous differentiation. Only 11 cases that adjust to the criteria delineated in the WHO classification have been published in the English literature, to the best of our knowledge. Here, we present the first SCB arising in the context of a deleterious BRCA2 mutation, focusing on the histopathologic and immunohistochemical features of this exceedingly rare tumor. Read More

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April 2018
4 Reads

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

Dermatol Online J 2017 Nov 15;23(11). Epub 2017 Nov 15.

Albert Einstein College of Medicine, Bronx, New York.

Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, is an autosomal dominant, tumor predisposing disorder usuallycaused by germline mutations in mismatch repair (MMR) genes. A subset of HNPCC, Muir-Torre Syndrome (MTS) also involves MMR gene defects and is generally accepted as a variant of HNPCC. MTS is typicallycharacterized by at least one visceral malignancy and one cutaneous neoplasm of sebaceous differentiation, with or without keratoacanthomas. Read More

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November 2017
6 Reads

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

Mol Clin Oncol 2018 Feb 8;8(2):306-309. Epub 2017 Dec 8.

Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.

Muir-Torre Syndrome (MTS) is a rare hereditary autosomal dominant cancer syndrome and is linked to hereditary non-polyposis colorectal carcinoma (Lynch Syndrome). Individuals develop various skin neoplasms in addition to colorectal, endometrial and upper gastrointestinal malignancies. Therapy-associated myelodysplastic syndrome (T-MDS) is an aggressive hematologic malignancy and is considered a pre-leukemic phase. Read More

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February 2018
2 Reads

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

Clin Exp Dermatol 2018 Jun 14;43(4):410-415. Epub 2018 Jan 14.

East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Background: Muir-Torre syndrome (MTS) is a subtype of Lynch syndrome, which encompasses the combination of sebaceous skin tumours or keratoacanthomas and internal malignancy, due to mutations in DNA mismatch repair genes. Sebaceous neoplasms (SNs) may occur before other malignancies, and may lead to the diagnosis, which allows testing of other family members, cancer surveillance, risk-reducing surgery or prevention therapies.

Aim: To evaluate the efficacy of universal immunohistochemistry (IHC) screening of SNs in a service setting. Read More

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June 2018
2 Reads

Sebaceous tumours: more than skin deep.

Gut 2018 11 15;67(11):1957. Epub 2017 Dec 15.

Department of Dermatology Venerology and Allergology, University Hospital Essen, Essen, Germany.

CLINICAL PRESENTATION: A 77-year-old man presented to our skin cancer centre with various cutaneous tumours occurring in 2006-2017. Histopathology showed a 'hidradenocarcinoma' on the left upper back (2006) and a sebaceous adenoma (figure 1) on the left shoulder (2011). In 2017, he developed a sebaceous carcinoma on the middle upper back, which manifested as a slowly enlarging, asymptomatic nodule. Read More

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November 2018
13 Reads

Inherited skin tumour syndromes.

Clin Med (Lond) 2017 Dec;17(6):562-567

Institute of Genetic Medicine, Centre for Life, Newcastle upon Tyne, UK.

This article provides an overview of selected genetic skin conditions where multiple inherited cutaneous tumours are a central feature. Skin tumours that arise from skin structures such as hair, sweat glands and sebaceous glands are called skin appendage tumours. These tumours are uncommon, but can have important implications for patient care. Read More

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December 2017
3 Reads

Sebaceous lesions of the skin.

Pathology 2017 Dec 25;49(7):688-697. Epub 2017 Oct 25.

Dermatopathology Group, Department of Anatomical Pathology, PathWest, Perth, Australia; School of Biomedical Sciences, University of Western Australia, Perth, WA, Australia. Electronic address:

Sebaceous differentiation is commonly seen in cutaneous neoplasms, both in the context of lesions showing predominantly sebaceous differentiation (e.g., sebaceous adenoma, sebaceoma and sebaceous carcinoma), or as more focal sebaceous components in neoplasms with other primary lines of differentiation. Read More

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December 2017
10 Reads

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

Acta Dermatovenerol Alp Pannonica Adriat 2017 09;26(3):63-66

Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Superficial epithelioma with sebaceous differentiation is the original name for a rare benign tumor that lacks consensus in the literature, both in nomenclature and in diagnostic criteria. We report the case of a 68-year-old male with a white papule on the left lower eyelid, fully excised. On histology, the lesion was a superficial, lobulated, plate-like epithelial proliferation, with small mature clusters of sebocytes and ductal structures. Read More

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September 2017
3 Reads

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

Skinmed 2017 1;15(4):259-264. Epub 2017 Aug 1.

Department of Dermatology, Walter Reed National Military Medical Center, Bethesda MD.

Muir-Torre syndrome is a rare genodermatosis inherited most frequently in an autosomal dominant fashion. Current criteria for its diagnosis include at least one sebaceous tumor and an underlying visceral malignancy. Muir-Torre syndrome is strongly associated with a germline mutation in DNA mismatch repair genes. Read More

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August 2017
13 Reads

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

JAAD Case Rep 2017 Jul 20;3(4):358-361. Epub 2017 Jul 20.

Department of Dermatology, The University of Texas MD Anderson Cancer Center, Houston, Texas.

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July 2017
3 Reads

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

J Cutan Pathol 2017 Nov 29;44(11):931-937. Epub 2017 Aug 29.

Departments of Dermatology and Pathology, Saint Louis University School of Medicine, St. Louis, Missouri.

Muir-Torre syndrome is a clinical variant of Lynch syndrome defined by the synchronous or metachronous occurrence of at least one sebaceous neoplasm and at least one Lynch syndrome-related internal cancer. Although screening guidelines for patients with colorectal carcinomas have been established, screening guidelines for cutaneous Muir-Torre associated neoplasms are not currently available. As such, we reviewed the current evidence for the use of MLH1, MSH2, MSH6 and PMS2 immunohistochemistry when cutaneous Muir-Torre associated neoplasms are encountered. Read More

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November 2017
28 Reads

Sebaceoma associated with seborrheic keratosis.

Rom J Morphol Embryol 2017 ;58(2):599-601

Servicio de Anatomia Patologica, Hospital El Bierzo, Ponferrada, Spain;

Sebaceoma associated with seborrheic keratosis has only been described once in the literature. Herein, we present an additional case in a 69-year-old woman who complained of a multicolored plaque on the left breast. Dermatoscopy showed a central orange lesion with orange globules suggestive of dilated glands. Read More

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April 2018
2 Reads

Sebaceous Carcinoma: A Review of the Scientific Literature.

Curr Treat Options Oncol 2017 08;18(8):47

Department of Dermatology, Columbia University Medical Center, New York, NY, 10032, USA.

Opinion Statement: Sebaceous carcinoma is a rare and potentially aggressive cutaneous malignancy. Commonly reported in the periocular area and the head and neck region, sebaceous carcinoma can arise from any sebaceous gland in the skin. The clinical presentation may be nonspecific, and a biopsy is important to establish a diagnosis and to differentiate from mimickers including benign sebaceous neoplasms, other adnexal tumors, and basal cell carcinoma. Read More

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August 2017
16 Reads

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

Virchows Arch 2017 09;471(3):435

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center/University of Vermont College of Medicine, Burlington, VT, USA.

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September 2017
3 Reads

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

Pathol Res Pract 2017 Jun 1;213(6):654-658. Epub 2017 Mar 1.

Department of Pathology, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang-si, Gyeonggi-do 431-070, Republic of Korea.

Sebaceous carcinoma (SC) represents a rare, aggressive eyelid malignancy with poor prognosis and is a possible component of Muir-Torre syndrome. However, genetic features as driver mutations or potential therapeutic targets are not fully elucidated. Recent a few studies have shown that SCs have concurrently multiple mutations including RAS/RAF/MAPK and PI3K/Akt pathways via next-generation sequencing in western population. Read More

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June 2017
15 Reads

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

Surg Case Rep 2017 Dec 23;3(1):71. Epub 2017 May 23.

Department of Gastroenterological Surgery I, Hokkaido University Graduate School of Medicine, North 15, West 7, Kita-Ku, Sapporo, Hokkaido, 060-8638, Japan.

Background: Muir-Torre syndrome (MTS) is a rare autosomal dominant genodermatosis caused by mutations in mismatch repair genes. It is characterized by the presence of at least one sebaceous skin tumor associated with internal malignancies. Whether positron emission tomography/computed tomography (PET/CT) is useful for the detection of malignancies in patients with MTS has not been determined. Read More

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December 2017
7 Reads

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

Hered Cancer Clin Pract 2017 12;15. Epub 2017 May 12.

Department of Genetics, Hôpital Nord, CHU Saint Etienne, 42055 Saint-Etienne Cedex 2, France.

Background: The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Read More

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May 2017
28 Reads

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

Virchows Arch 2017 07 13;471(1):129-132. Epub 2017 May 13.

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center/University of Vermont College of Medicine, Burlington, VT, USA.

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July 2017
16 Reads

Sebaceous Neoplasms.

Authors:
Katharina Flux

Surg Pathol Clin 2017 Jun;10(2):367-382

Department of Dermatology, University of Heidelberg, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany; Labor für Dermatohistologie und Oralpathologie, Bayerstrasse 69, 80335 München, Munich, Germany. Electronic address:

Sebaceous skin tumors are classified into sebaceous adenoma, sebaceoma, and sebaceous carcinoma. An additional group of cystic sebaceous tumors indicate the Muir-Torre syndrome (MTS). Cystic sebaceous tumors are considered as morphologic variants of the 3 main categories. Read More

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June 2017
9 Reads

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

Acta Derm Venereol 2017 Aug;97(8):959-961

Department of Dermatology and Venereology, Université Paris 7, Saint Louis Hospital, FR-75010 Paris, France.

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August 2017
4 Reads

MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots.

Authors:
Meera Mahalingam

Am J Dermatopathol 2017 Apr;39(4):239-249

Dermatopathology Section Chief, Dermatopathology Section, Department of Pathology and Laboratory Medicine (113), VA Consolidated Laboratories, West Roxbury, MA.

Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Read More

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April 2017
3 Reads

[Muir-Torre syndrome and Turcot syndrome].

Ann Dermatol Venereol 2017 Aug - Sep;144(8-9):525-529. Epub 2017 Feb 27.

Clinique dermatologique, hôpitaux universitaires de Strasbourg, université de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France.

Introduction: Lynch syndrome (LS) is a syndrome that carries a genetic predisposition to certain cancers associating, either in a single individual or in a family, a visceral tumour, mainly colorectal, with a high risk of other synchronous or metachronous cancers. LS is linked with mutations in the genes coding for proteins in the DNA repair system. Phenotypic variants of SL exist, including Muir-Torre syndrome (MTS) and Turcot syndrome (TS), both of which predispose to colorectal cancer. Read More

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June 2018
3 Reads

Sebaceous adenoma arising in mature cystic teratoma of the ovary. Case report.

Cesk Patol 2017 ;53(1):35-37

We report the case of a 44-year-old female with sebaceous adenoma arising in mature cystic teratoma of the ovary. The patient had a tumor in the left ovary; 125 x 90 x 70 mm. Microscopically, the tumor consisted of structures typical of dermoid cysts. Read More

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January 2017
9 Reads

Sebaceous carcinoma in solid organ transplant recipients.

Int J Dermatol 2017 Jul 8;56(7):746-749. Epub 2017 Feb 8.

Mayo Clinic Arizona, Scottsdale, AZ, USA.

Background: Though a rare tumor, sebaceous carcinoma is relatively well-described in immunocompetent patients, in whom it often occurs in a periorbital distribution where it has an overall poor prognosis with a high metastasis rate. The effect of transplant-related immunosuppression on the development of sebaceous carcinoma and its outcomes has not been characterized.

Methods: We collected 9 cases from a single institution of patients developing sebaceous carcinoma after solid organ transplantation. Read More

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July 2017
10 Reads

Sebaceous Carcinoma Treated With Mohs Micrographic Surgery.

Dermatol Surg 2017 Feb;43(2):281-286

*Department of Dermatology, Roswell Park Cancer Institute, Buffalo, New York;†Division of Dermatology, Washington University School of Medicine, St. Louis, Missouri.

Background: Sebaceous carcinoma is a rare and potentially aggressive adnexal neoplasm with historic data indicating high rates of recurrence, metastasis, and cancer-specific mortality.

Objective: To evaluate the incidence of local recurrence, metastasis, disease-specific mortality, and all-cause mortality and to identify work-up approaches.

Patients And Methods/materials: Retrospective review of patients with sebaceous carcinoma treated with Mohs micrographic surgery between 2001 and 2013 at one institution. Read More

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February 2017
11 Reads

Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination.

Eur J Dermatol 2017 Feb;27(1):54-58

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

Background: Muir-Torre syndrome (MTS) is characterized by sebaceous neoplasms with internal malignancies and regarded as a variant of hereditary nonpolyposis colorectal cancer (HNPCC). Pathogenic variations of MTS have been identified in the MSH2, MLH1, and MSH6 genes, with the majority of variations located in MSH2.

Objectives: To present an MTS patient who was the only individual with skin malignancies within a cancer-prone pedigree and to show the usefulness of RNA-based genetic analysis in the investigation of MTS. Read More

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February 2017
10 Reads

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.

Head Neck Pathol 2017 Sep 21;11(3):364-376. Epub 2017 Jan 21.

Department of Histopathology, King's College Hospital, London, SE5 9R, UK.

Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). Read More

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September 2017
4 Reads

Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome.

Am J Dermatopathol 2016 Dec;38(12):915-923

*Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Prague, Czech Republic; †Bioptical Laboratory, Pilsen, Czech Republic; and ‡Department of Dermatology, Regional Hospital, Sumperk, Czech Republic.

A 76-year-old white male with a history of adenocarcinoma of the rectosigmoideum and multiple colonic polyps removed at the age of 38 and 39 years by an abdominoperitoneal amputation and total colectomy, respectively, presented with multiple whitish and yellowish papules on the face and a verrucous lesion on the trunk. The lesions were surgically removed during the next 3 years and a total of 13 lesions were investigated histologically. The diagnoses included 11 sebaceous adenomas, 1 low-grade sebaceous carcinoma, and 1 squamous cell carcinoma. Read More

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December 2016
24 Reads

Muir-Torre syndrome: multiple sebaceous neoplasms and visceral malignancy manifesting after cardiac transplantation and iatrogenic immunosuppression.

Int J Dermatol 2017 Feb 21;56(2):e26-e27. Epub 2016 Nov 21.

Department of Dermatology, University of Maryland School of Medicine, Baltimore, MD, USA.

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February 2017
25 Reads

Unusual Presentation of Ulcerative Postauricular Swelling as Sebaceous Cell Carcinoma.

Niger J Surg 2016 Jul-Dec;22(2):127-129

Department of General Surgery, Government Medical College, Patiala, Punjab, India.

Sebaceous glands have high concentration over head and neck region. Despite high concentration, sebaceous cell adenoma and carcinomas are infrequent. Sebaceous cell carcinoma is an uncommon, cutaneous aggressive tumor arising from the sebaceous glands and seen almost exclusively on the eyelids (75%). Read More

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November 2016
7 Reads

Clinicopathological study of 47 cases of sebaceoma.

Ann Dermatol Venereol 2016 Dec 9;143(12):814-824. Epub 2016 Nov 9.

Clinique dermatologique, faculté de médecine, université de Strasbourg, hôpitaux universitaires de Strasbourg, hôpital civil, 1, place de l'Hôpital, BP 426, 67091 Strasbourg cedex, France.

Background: Sebaceoma is a rare and poorly understood form of sebaceous tumour, and it is of great significance since it may reveal Muir-Torre syndrome (MTS). Herein, we present a series of cases with details of the histopathological appearance.

Patients And Methods: We examined records of cases labelled as sebaceous tumour recorded at the Strasbourg Dermatopathology Laboratory between 1991 and 2015. Read More

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December 2016
29 Reads

Generational Expression of Muir-Torre Syndrome in a Canadian Family.

Case Rep Dermatol Med 2016 16;2016:1712527. Epub 2016 Oct 16.

Department of Biomolecular Sciences, Laurentian University, 935 Ramsey Lake Road, Sudbury, ON, Canada.

Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She has a confirmed mutation. Read More

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October 2016
12 Reads

[Muir-Torre syndrome associated with Waldenstrom's macroglobulinemia].

Ann Dermatol Venereol 2016 Dec 19;143(12):825-830. Epub 2016 Oct 19.

Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.

Background: Muir-Torre syndrome (MTS), a cutaneous variant of Lynch syndrome, consists of hereditary predisposition to cutaneous tumours and gastrointestinal and gynaecological neoplasms, with autosomal dominant transmission. It is associated with mutations in genes coding for proteins in the DNA mismatch repair system.

Patients And Methods: Herein, we report a case of a male patient presenting Waldenstrom's macroglobulinemia since the age of 50 and which, after the age of 65 years, developed into sebaceous tumours (5 sebaceous adenomas, 1 sebaceoma, 1 sebaceous carcinoma) and colonic lesions (4 adenomas). Read More

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December 2016
4 Reads

Sebaceous adenomas in the absence of Muir-Torre syndrome.

Can J Ophthalmol 2016 Oct 31;51(5):e152-e153. Epub 2016 Aug 31.

Royal Adelaide Hospital, Adelaide, Australia; University of Adelaide, Adelaide, Australia.

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October 2016
5 Reads

Universal immunohistochemical screening of sebaceous neoplasms for Muir-Torre syndrome: Putting the cart before the horse?

J Am Acad Dermatol 2016 Nov;75(5):1078-1079

Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York. Electronic address:

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November 2016
13 Reads