Search Our Scientific Publications & Authors

Dermatol Surg 2021 Jun 7. Epub 2021 Jun 7.

Division of Dermatology and Mohs Surgery, Scripps Clinic, La Jolla, California; Department of Dermatology, Naval Medical Center San Diego, San Diego, California; Department of Medicine, Scripps Mercy Hospital, San Diego, 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

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

Genes (Basel) 2021 May 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

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

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

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

Am J Dermatopathol 2021 May 5. Epub 2021 May 5.

Department of Dermatology and Allergy, University Hospital Munich (LMU), Germany; Institute of Pathology, Medical University Innsbruck, Innsbruck, Austria; Dermatohistology Laboratory, Offenbach on the Main, Germany; and 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

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.

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

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

J Dermatol 2021 May 1;48(5):690-694. Epub 2021 Feb 1.

Department of Dermatology, Hyogo Cancer Center, Akashi, Japan.

Muir-Torre syndrome is a hereditary condition characterized by occurrence of sebaceous neoplasms or keratoacanthomas and visceral tumors. The most common mechanism for this syndrome is a constitutional defect in the mismatch repair genes. We report the case of a 67-year-old woman with a mutator L homologue 1 (MLH1) mutation. Read More

Cancer Genet 2021 Jun 19;254-255:1-10. Epub 2021 Jan 19.

Department of Pathology, Circolo Hospital ASST Settelaghi, via O. Rossi 9, 21100, Varese, Italy; Research Center for the Study of Hereditary and Familial Tumors, Department of Medicine and Surgery, University of Insubria, via O. Rossi 9, 21100, Varese, Italy.

A MSH6 3'UTR variant (c.*23_26dup) was found in 13 unrelated families consulted for Lynch/Muir-Torre Syndrome. This variant, which is very rare in the genomic databases, was absent in healthy controls and strongly segregated with the disease in the studied pedigrees. Read More

Ann Dermatol Venereol 2021 Jun 19;148(2):116-121. Epub 2021 Jan 19.

Dermatology clinic, Strasbourg university hospital, 1, place de l'Hôpital, 67091 Strasbourg, France.

Introduction: Androgen receptor (AR) immunohistochemistry is used in general pathology and in dermatopathology, particularly for sebaceous tumours. The goal of this study was to quantify AR expression in benign and malignant epidermal tumours and adnexal tumours.

Methods: We studied AR expression in 301 skin lesions using standard immunohistochemistry and compared 10 trichoblastomas, 10 sebaceomas and 10 hidradenomas using 5 markers (cytokeratin 7 and 8, PHLDA1, BerEp4 and AR). Read More

Skinmed 2020 1;18(6):382-384. Epub 2020 Dec 1.

Dr. Philip Frost, Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL.

A 64-year-old man was referred to our dermatology clinic with a diagnosis of Muir-Torre syndrome (MTS), he had a history of multiple sebaceous carcinomas and sebaceous adenomas removed over the years. The patient has also had visceral cancer and had undergone a colon resection 17 years before to treat colon cancer and was recently diagnosed with invasive high-grade urothelial carcinoma of the right ureter. In addition, the patient has an extensive family history of cancer; a pedigree was constructed to document this history (Figure 1). Read More

JNCI Cancer Spectr 2020 Apr 27;4(2):pkaa020. Epub 2020 Feb 27.

Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

Sebaceous carcinoma (SC) is an aggressive skin tumor. Although ultraviolet radiation (UVR) is an important risk factor for some skin cancer types, no population-level study has evaluated for an association between UVR and SC risk. Herein, we examined satellite-based ambient UVR in relation to SC incidence using Surveillance, Epidemiology, and End Results 18 cancer registry data (2000-2016). Read More

Eur J Hum Genet 2021 Mar 15;29(3):489-494. Epub 2020 Dec 15.

Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.

Pathogenic variants in TP53 have been classically thought to cause Li-Fraumeni syndrome (LFS), a cancer predisposition with high risks for various childhood- and adult-onset malignancies. However, increased genetic testing has lately revealed, that pathogenic variant carriers exhibit a broader range of phenotypes and that penetrance may be dependent both on variant type and modifiers. Using next generation sequencing and short tandem repeat analysis, we identified germline pathogenic variants in TP53 and RAD51C located in cis on chromosome 17 in a 43-year-old male, who has developed a rare sebaceous gland carcinoma (SGC) but so far no tumors of the LFS spectrum. Read More

Hered Cancer Clin Pract 2020 Nov 16;18(1):23. Epub 2020 Nov 16.

Department of Medicine, Division of Medical Oncology, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.

Background: Cutaneous malignancies are rare complications of Lynch syndrome and can include Muir-Torre and Turcot syndromes that are associated with sebaceous gland tumors and keratoacanthomas. The incidence and clinical course of cutaneous squamous cell carcinoma have not been well documented in Lynch syndrome due to its rarity.

Case Presentation: A 49-year male presented with an enlarging groin skin lesion that was biopsed and demonstrated cutaneous squamous cell carcinoma for which he underwent a surgical resection. Read More

An Bras Dermatol 2021 Jan-Feb;96(1):103-105. Epub 2020 Nov 20.

Department of Dermatology, Hospital do Servidor Público Estadual de São Paulo, São Paulo, SP, Brazil.

Muir-Torre syndrome is a rare, autosomal dominant genodermatosis, characterized by sebaceous neoplasms and visceral carcinomas. The authors describe the case of a patient who, 16 years after the diagnosis of colon carcinoma, presented a verrucous plaque on the pubic region, histopathologically compatible with sebaceous adenoma. The need to investigate this syndrome is emphasized, especially in cases of sebaceous neoplasms located outside the head, face, and neck. Read More

Am J Dermatopathol 2021 Mar;43(3):174-181

Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Pilsen, Czech Republic.

Abstract: Sebaceous neoplasms occur sporadically or in the setting of Muir-Torre syndrome. The data regarding the correlation of pathologic features and DNA mismatch repair (MMR) staining pattern in sebaceous tumors of the skin are very scanty and based on relatively small series of patients. The goal of this study was to correlate MMR staining pattern with selected morphological features in a series of 145 sebaceous neoplasms (sebaceous adenoma, sebaceoma, and extraocular sebaceous carcinoma) from 136 patients. Read More

Case Reports Plast Surg Hand Surg 2020 Oct 19;7(1):124-129. Epub 2020 Oct 19.

Department of Plastic Surgery, University of South Florida, Tampa, FL, USA.

Muir-Torre syndrome (MTS) a genetic disorder characterized by predisposition to cutaneous neoplasms. Lipedematous scalp is characterized by the presentation of a thick, sponge-like scalp due to the altered and increased deposition of adipose tissue. We present a case of Muir-Torre-associated sebaceous carcinoma of the scalp consistent with a lipedematous scalp. Read More

JAMA Dermatol 2020 12;156(12):1307-1314

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.

Importance: Risk of sebaceous carcinoma (SC), a rare skin cancer associated with Muir-Torre syndrome, is elevated among solid organ transplant recipients (SOTRs). However, population studies evaluating this association and assessing survival for posttransplant cases are lacking, and further understanding of SC epidemiology in this immunosuppressed population could provide etiologic and clinical insights.

Objective: To assess SC incidence and patient survival after solid organ transplantation. Read More

Dermatol Surg 2021 Jun;47(6):828-829

Department of Dermatology, University of California, Irvine, California.

Ocul Oncol Pathol 2020 Aug 22;6(4):297-304. Epub 2020 Jan 22.

Department of Oculoplastics, Massachusetts Eye and Ear/Harvard Medical School, Boston, Massachusetts, USA.

Over a period of 1 year, a 74-year-old man slowly developed a painless left upper eyelid intratarsal mass. The skin was movable over the lesion. At surgery, a well-circumscribed, yellow-white, partially cystic tumor was encountered. Read More

Ocul Oncol Pathol 2020 Aug 10;6(4):280-286. Epub 2020 Mar 10.

Department of Ophthalmic Pathology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

A 68-year-old woman developed an asymptomatic left caruncular multilobular lesion over one year. Excision of the lesion displayed a benign sebaceous neoplasm taking origin from the surface squamous epithelium which invaginated into the stroma to create crypts resembling the conjunctival pseudoglands of Henle or the glands of Lieberkuhn of the small intestine. Scattered sebaceous cells were also discovered in the surface squamous epithelium. Read More

Ocul Oncol Pathol 2020 Aug 15;6(4):226-237. Epub 2020 Jan 15.

Department of Ophthalmic Pathology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Background: Muir-Torre syndrome (MTS) is defined clinically as the association of cutaneous sebaceous neoplasm and visceral malignancy. Ancillary tests are considered crucial for diagnosis. Although screening guidelines for MTS, including the Mayo MTS scoring system, have been proposed, there are no ophthalmic site-specific guidelines. Read More

JAAD Case Rep 2020 Sep 9;6(9):886-891. Epub 2020 Jul 9.

Pathology and Lab Medicine Services, VA New Jersey Medical Center, East Orange, New Jersey.

Neurol Ther 2020 Dec 11;9(2):605-610. Epub 2020 Aug 11.

Department of Neurology, Queen's Medical Centre Campus, Nottingham University Hospitals NHS Trust, Derby Road, Nottingham, UK.

The therapeutic options for disease modification in relapsing-remitting multiple sclerosis (RRMS) have expanded remarkably in the last 15 years. Although intravenous immunoglobulins (IVIg) have shown some therapeutic effects in multiple sclerosis, reducing global supplies, restriction of treatment to essential indications and availability of effective alternative treatments for MS currently exclude IVIg from being an accepted therapy for MS, other than for some exceptional considerations. We report the case of a female patient with RRMS who was diagnosed with Ehlers-Danlos syndrome (EDS) and Muir-Torre syndrome (MTS) soon after the diagnosis of active RRMS was made. Read More

JAAD Case Rep 2020 Jul 11;6(7):587-589. Epub 2020 May 11.

Department of Dermatology, University of California, Irvine, California.