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    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

    Cumulative risk of skin tumours in patients with Lynch syndrome.
    Br J Dermatol 2018 Mar 15. Epub 2018 Mar 15.
    Department of Gastroenterology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
    Lynch syndrome (LS) is an autosomal-dominant disorder characterized by a predisposition to colorectal cancer and extracolonic malignancies. LS is caused by a germline mutation in one of the four DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6 and PMS2) or loss of expression of MSH2 due to deletion in the EPCAM gene. Muir-Torre syndrome (MTS) is considered a variant of LS, in which patients present with sebaceous neoplasms and/or keratoacanthomas. Read More

    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

    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

    Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.
    Clin Exp Dermatol 2018 Jan 14. 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

    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

    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

    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

    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

    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

    Sebaceous Carcinoma: A Review of the Scientific Literature.
    Curr Treat Options Oncol 2017 Aug;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

    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

    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

    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

    Sebaceous Neoplasms.
    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

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

    [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

    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

    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

    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

    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

    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

    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

    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

    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

    [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

    Upper tract urothelial carcinomas: frequency of association with mismatch repair protein loss and lynch syndrome.
    Mod Pathol 2017 Jan 7;30(1):146-156. Epub 2016 Oct 7.
    Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
    Increased risk for upper tract urothelial carcinoma is described in patients with Lynch syndrome, caused by germline mutations in mismatch repair genes. We aimed to identify the frequency of mismatch repair protein loss in upper tract urothelial carcinoma and its potential for identifying an association with Lynch syndrome. We queried our database to identify upper tract urothelial carcinomas. Read More

    Next-generation sequencing identifies high frequency of mutations in potentially clinically actionable genes in sebaceous carcinoma.
    J Pathol 2016 09;240(1):84-95
    Orbital Oncology and Ophthalmic Plastic Surgery, Department of Plastic Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
    Sebaceous carcinoma (SC) is a rare but aggressive malignancy with frequent recurrence and metastases. Surgery is the mainstay of therapy, but effective systemic therapies are lacking because the molecular alterations driving SC remain poorly understood. To identify these, we performed whole-exome next-generation sequencing of 409 cancer-associated genes on 27 SCs (18 primary/locally recurrent ocular, 5 paired metastatic ocular, and 4 primary extraocular) from 20 patients. Read More

    The cutaneous manifestations of gastrointestinal malignancy.
    Semin Oncol 2016 06 23;43(3):341-6. Epub 2016 Feb 23.
    University of Louisville Division of Dermatology, Louisville, KY. Electronic address:
    The skin is often the herald of an underlying systemic illness, and gastrointestinal malignancies can present in numerous ways in the skin. Paraneoplastic phenomenon, such as acanthosis nigricans and tripe palm, may be the first indicator of a gastrointestinal malignancy. In addition, gastrointestinal cancers can metastasize to the skin, as described in the well-known Sister Mary Joseph's nodule. Read More

    Nuclear factor XIIIa staining (clone AC-1A1 mouse monoclonal) is a highly sensitive marker of sebaceous differentiation in normal and neoplastic sebocytes.
    J Cutan Pathol 2016 Aug 14;43(8):657-62. Epub 2016 Jun 14.
    Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
    Background: Sebaceous proliferations are common and may be confused with other cutaneous neoplasms. Few useful or specific immunohistochemical markers for sebaceous differentiation are available. We incidentally observed strong factor XIIIa (Ventana clone AC-1A1 on Ventana Benchmark Ultra stainer) nuclear staining in normal sebaceous glands and hypothesized that this might be a useful marker in sebaceous proliferations. Read More

    [Lynch syndrome, Muir Torre variant: 2 cases].
    Rev Gastroenterol Peru 2016 Jan-Mar;36(1):81-5
    Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú; Universidad Peruana Cayetano Heredia. Lima, Perú.
    Lynch syndrome (LS) is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2). Muir-Torre syndrome (MTS) is a phenotypic variant of LS that includes a predisposition to sebaceous glands tumors and keratoacanthomas. We report two patients with MTS, with more than one LS-related cancer, skin lesions, family history of cancer andmicrosatellite instability and immunohistochemistry analysis. Read More

    Urothelial Carcinoma Recurrence in an Ileal Neobladder Nine Years after Primary Surgery with Muir-Torre Syndrome.
    Case Rep Urol 2016 30;2016:4762514. Epub 2016 Mar 30.
    Department of Surgery and Urology, Riviera-Chablais Hospital, 1820 Montreux, Switzerland.
    We report a patient who presented with a urothelial carcinoma recurrence developed nine years after radical cystoprostatectomy, related to Muir-Torre syndrome. Read More

    Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome.
    Clin Chem Lab Med 2016 Nov;54(11):1725-1731
    Sebaceous tumours and keratoacanthomas are uncommon neoplasms that constitute important clinical criteria for Muir-Torre syndrome (MTS) diagnosis. In MTS patients, the increased risk of developing synchronous or metachronous visceral malignancies is characterised by autosomal dominant inheritance. However, there are further conditions, other than MTS, that increase the risk of sebaceous neoplasms, e. Read More

    Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation.
    J Clin Aesthet Dermatol 2016 Jan;9(1):56-9
    Oakwood Healthcare System, Trenton, Michigan.
    Muir-Torre syndrome is a rare, autosomal dominant genodermatosis characterized by the presence of at least one sebaceous gland neoplasm, associated with an underlying visceral malignancy. Muir-Torre syndrome is believed to be a subtype of Lynch Syndrome. Affected individuals are found to have germline mutations predominantly in DNA mismatch repair gene MSH2, and much less frequently, MLH1. Read More

    Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma.
    Case Rep Oncol 2016 Jan-Apr;9(1):95-9. Epub 2016 Feb 4.
    Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
    Muir-Torre syndrome (MTS) is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. Read More

    Sebaceous carcinoma on the abdomen in an African-American male patient.
    Indian Dermatol Online J 2015 Dec;6(Suppl 1):S27-9
    Department of Dermatology, Walter Reed National Military Medical Center, Maryland, USA.
    Sebaceous carcinoma is a rare, aggressive cutaneous tumor most commonly involving the head and neck, especially the periorbital area. It has been associated with Muir-Torre syndrome, human papillomavirus infection, and radiotherapy. This case report describes an unusual clinical presentation of a large sebaceous carcinoma on the abdomen of an African-American male patient who was successfully treated with Mohs micrographic surgery. Read More

    Mismatch Repair Protein Expression in Fordyce Granules.
    Appl Immunohistochem Mol Morphol 2017 03;25(3):209-212
    Hospital El Bierzo, Fuentesnuevas, Leon, Spain.
    Fordyce spots are a frequent condition under which sebaceous glands are found in the oral mucosa. There are 2 studies in the literature that have found an association between Fordyce spots and either Muir-Torre syndrome or Lynch syndrome. Despite this, no study on the expression of mismatch repair (MMR) proteins has been performed on biopsies of Fordyce granules. Read More

    Muir-Torre syndrome (MTS): An update and approach to diagnosis and management.
    J Am Acad Dermatol 2016 Mar;74(3):558-66
    Department of Dermatology, Rutgers-New Jersey Medical School, Newark, New Jersey; Rutgers University School of Public Affairs and Administration, Newark, New Jersey. Electronic address:
    Muir-Torre syndrome (MTS) is a rare genetic condition that predisposes individuals to skin tumors and visceral malignancies. Because of the potentially aggressive nature of internal malignancies and sebaceous carcinoma, and the tendency to have multiple low-grade visceral cancers, close cancer surveillance is required in individuals and their families with this usually autosomal dominant disorder. Although the majority of MTS is caused by mutations in DNA mismatch repair genes resulting in microsatellite instability, a newly described subtype of MTS does not demonstrate microsatellite instability and may be inherited in an autosomal recessive pattern. Read More

    Familial skin cancer syndromes: Increased risk of nonmelanotic skin cancers and extracutaneous tumors.
    J Am Acad Dermatol 2016 Mar;74(3):437-51; quiz 452-4
    Department of Dermatology, Stanford University Medical Center, Stanford, California. Electronic address:
    Nonmelanoma skin cancers (NMSCs) represent the most common malignancies worldwide, with reported incidence rising each year. Both cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), as well as other NMSCs, represent complex diseases with a combination of environmental and genetic risk factors. In general, hereditary cancer syndromes that increase the risk of NMSC fall under several broad categories: those associated with immunodeficiencies, those that affect skin pigmentation, and those that perturb key molecular pathways involved in the pathogenesis of NMSCs. Read More

    Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.
    Gene 2016 May 3;582(1):23-32. Epub 2016 Feb 3.
    Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, Italy.
    Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. Read More

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