596 results match your criteria: "Muir-Torre Syndrome"
Overall drivers of mortality in sebaceous carcinoma patients with and without Muir-Torre syndrome: A population-based analysis.
J Am Acad Dermatol
December 2024
Department of Dermatology, Baylor College of Medicine, Houston, Texas.
Sebaceous gland hyperplasia is a benign cutaneous entity commonly seen in older men. Occasionally, it can develop in young patients on immunosuppression with cyclosporine or in adolescent boys in the peripubertal age group. It is extremely rare in young children with no reports of eyelid involvement.
View Article and Find Full Text PDFA novel lynch syndrome kindred with hereditary adrenal cortical carcinoma.
Cancer Genet
November 2024
Eastern Virginia Medical School, Norfolk, VA, USA; Virginia Oncology Associates, Norfolk, VA, USA.
Background: Adrenal cortical carcinoma (ACC) is an extremely rare malignancy, and advanced ACC carries a very poor prognosis. Early detection is critical since early-stage disease can be cured with surgical resection. ACC can be seen in Lynch syndrome; this case and review of the literature provide insight as to the potential biological origin of this malignancy.
View Article and Find Full Text PDF-Mutated Lynch Syndrome With 9 Synchronous Colon and Rectum Adenocarcinomas: An Extremely Rare Case Report.
Int J Surg Pathol
November 2024
Department of Laboratory Medicine and Pathology, Geisinger Medical Center, Danville, PA, USA.
Synchronous colorectal carcinoma is having more than 1 primary carcinoma detected in a single patient at the same time or within 6 months of tumor diagnosis. Metachronous colorectal carcinoma is the presence of more than 1 primary carcinoma detected consecutively in a single person after a set time interval. Patients with Lynch syndrome and Muir-Torre syndrome (a subset of Lynch syndrome) inherit a germline mutation in 1 of the mismatch repair (MMR) genes.
View Article and Find Full Text PDFSkin as a Reflection of Gut Health: An Overview of Dermatological Manifestations in Primary Neoplastic and Autoimmune Gastrointestinal Disorders.
Cureus
October 2024
Internal Medicine, Jinnah Postgraduate Medical Centre, Karachi, PAK.
Gastrointestinal (GI) diseases can present with several extraintestinal manifestations, and cutaneous signs and symptoms are most frequent. Although conventionally GI and skin are considered two entirely separate organ systems, they are closely correlated in origin. An increasing amount of data highlights the complex relationship between GI and dermatological conditions.
View Article and Find Full Text PDF[Sebaceous gland carcinoma of the eyelid co-occurred with other tumors: a report of four cases].
Zhonghua Yan Ke Za Zhi
November 2024
Tianjin Eye Hospital, Nankai University Affiliated Eye Hospital, Clinical College of Ophthalmology of Tianjin Medical University, Tianjin Eye Institute, Tianjin Key Laboratory of Ophthalmology and Visual Science, Tianjin 300020, China.
Article Synopsis
- The article discusses four cases of sebaceous gland carcinoma of the eyelid, with three cases associated with other ocular tumors and two with visceral cancers, including chronic lymphocytic leukemia/small lymphocytic lymphoma.
- Immunohistochemistry and whole-exome sequencing showed that the cases with visceral cancers did not qualify for Muir-Torre syndrome, and two cases revealed mutations in the ZNF750 gene.
- Surgical treatments included tumor excision in three cases and enucleation in one, with follow-ups indicating no recurrence in three patients, while one patient unfortunately died from ovarian cancer metastasis.
Multiple Eruptive Sebaceous Hyperplasia Secondary to Muir-Torre Syndrome Treated With Fractional Carbon Dioxide Laser Resurfacing Technique: A Case Report.
Skin Res Technol
October 2024
Dermatology Unit, IRCCS of Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Acitretin chemoprophylaxis in Muir-Torre syndrome: A case report with longitudinal follow-up.
JAAD Case Rep
October 2024
Department of Dermatology, Case Western Reserve University School of Medicine and MetroHealth System, Cleveland, Ohio.
Muir-Torre Syndrome: A Case Report and a Literature Review of Genetic Insights and Cancer Surveillance.
Cureus
July 2024
Internal Medicine, Memorial Medical Center, Springfield, USA.
Article Synopsis
- * A case study of a 57-year-old woman with MTS illustrates her medical history involving multiple skin tumors and a recurring bladder cancer, confirmed by an MSH2 mutation.
- * The report highlights the importance of genetic testing, proactive cancer surveillance, and collaboration among healthcare professionals, while advocating for continued research to improve understanding and treatment of MTS.
[Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].
Zhonghua Yi Xue Za Zhi
August 2024
The School of Clinical Medicine, Fujian Medical University, Fuzhou 350122, China Department of Dermatology, Zhongshan Hospital of Xiamen University, Xiamen 361004, China.
Article Synopsis
- This study looked at a family with Muir-Torre syndrome (MTS), which is linked to a mutation in a gene called MLH1.
- A 51-year-old patient in the family had skin and colon cancer, and the family fit the criteria of having Lynch syndrome.
- Researchers found a harmful mutation in the MLH1 gene and checked other family members, discovering that three of them also had the mutation but were doing well without any new cancers by the end of 2023.
Muir-Torre syndrome in Fitzpatrick skin phototype V assessed by dermoscopy and reflectance confocal microscopy.
Skin Res Technol
August 2024
Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Minimally Invasive Plasma Device Management of Multiple Benign Skin Cancers Associated with Rare Genodermatoses-Case Series and Review of the Therapeutic Methods.
J Clin Med
July 2024
Department of Dermatology, Military Institute of Medicine-National Research Institute, Central Clinical Hospital Ministry of Defense, Szaserow 128, 04-141 Warsaw, Poland.
Article Synopsis
- * A recent study looked at 11 patients with skin tumors, showing that a new FDA-approved plasma device was very effective for treating some of them, leading to great results.
- * Having multiple skin tumors, especially on the face, can be tough for people's feelings and lives, so finding the right treatment that works for each person is really important.
A case of Muir-Torre syndrome on [18F]FDG PET/CT.
Nucl Med Rev Cent East Eur
June 2024
Department of Radiology, University of Florida Health, Jacksonville, USA.
Article Synopsis
- - Muir-Torre syndrome (MTS) is a rare genetic disorder linked to Lynch syndrome, characterized by skin tumors and an increased risk of internal cancers.
- - A 63-year-old man with MTS, who has a history of skin and internal cancers, underwent a specific imaging test called [18F]FDG PET/CT to monitor his condition.
- - The findings suggest that [18F]FDG PET/CT is more effective than traditional CT scans for diagnosing and tracking MTS, although there are limited reports on its use.
Skin cancer-associated genodermatoses in skin of color patients: a review.
Arch Dermatol Res
May 2024
Tufts Medical Center, 800 Washington St, Boston, MA, 02111, USA.
Article Synopsis
- Skin cancers often relate to various genodermatoses, but current knowledge primarily reflects presentations in White patients, lacking sufficient focus on skin-of-color (SOC) individuals.
- The study analyzed 381 articles involving 578 SOC patients to uncover notable differences in the manifestation of skin cancer-related findings and age of onset based on genodermatoses.
- Findings indicated SOC patients may display fewer classic signs of conditions like Gorlin syndrome and experience varying onset ages for skin cancers, highlighting the need for improved awareness to enhance early diagnosis and treatment.
Patients with a new-onset cutaneous sebaceous neoplasm following immunosuppression should be evaluated for Muir-Torre syndrome with germline mismatch repair gene mutation analysis: case reports.
Dermatol Online J
March 2024
Department of Dermatology, University of California Davis Health, Sacramento, California, USA Touro University California College of Osteopathic Medicine, Vallejo, California, USA.
Article Synopsis
- - Muir-Torre syndrome is linked to systemic malignancies and sebaceous tumors (like adenomas or carcinomas) caused by mutations in mismatch repair genes, with immunosuppression potentially promoting tumor development.
- - The syndrome is observed more frequently and earlier in kidney transplant recipients due to their higher exposure to immunosuppressive medications, and changing medication types can reduce tumor development.
- - Researchers suggest that genetic testing for mismatch repair gene mutations should be standard for all patients who present with sebaceous neoplasms associated with Muir-Torre syndrome, whether they are immunocompetent or immunosuppressed.
Atypical Periocular Lesions: Muir-Torre Syndrome.
Ophthalmic Plast Reconstr Surg
September 2024
Bascom Palmer Eye Institute, University of Miami, Miami, Florida, U.S.A.
S1-Guideline Sebaceous Carcinoma.
J Dtsch Dermatol Ges
May 2024
Department of Dermatology, Venereology and Allergology, University Medical Center Essen, Essen, Germany.
Article Synopsis
- * These tumors can be aggressive, often recurring and metastasizing, especially periocular ones (up to 15%), while extraocular cases have a lower metastasis rate (up to 2%).
- * The main treatment is complete micrographically controlled surgery, with additional options like radiotherapy, while advanced cases may require individualized treatment plans from a tumor board due to a lack of standard therapies.
Unusual cystic sebaceous neoplasm prompts cascade testing.
JAAD Case Rep
May 2024
Department of Dermatology, San Antonio Uniformed Services Health Education Consortium, San Antonio, Texas.
Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review.
Medicina (Kaunas)
February 2024
Department of Dermatology, University of Thessaly, University Hospital of Larissa, 41334 Larissa, Greece.
Article Synopsis
- - Keratoacanthoma (KA) is a rapidly growing skin tumor that can appear as single or multiple lesions, particularly in certain rare genetic syndromes like Ferguson-Smith syndrome and others.
- - Treatment of these syndromes is complex because of the presence of numerous lesions and other skin cancers, exemplified by a case involving a 40-year-old woman with multiple treatment-resistant keratoacanthomas and invasive squamous cell carcinoma.
- - The woman was successfully treated with a combination of oral acitretin and topical Fluorouracil for her keratoacanthomas, while surgical intervention was used for her ulcerated cancer, and the study included a review of literature on diagnosis and treatment of similar syndromes
Sebaceomas in a Muir-Torre-like Phenotype in a Patient with MUTYH-Associated Polyposis.
Dermatopathology (Basel)
March 2024
Department of Pathology & Laboratory Medicine, Department of Dermatology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14620, USA.
Article Synopsis
- - The case report discusses a patient with MUTYH-associated polyposis (MAP), presenting symptoms similar to Muir-Torre syndrome, including multiple sebaceomas.
- - MAP results from mutations in the MUTYH gene, which is involved in DNA repair and is linked to a higher risk of colorectal cancer and adenomatous polyps.
- - The findings suggest that patients showing multiple sebaceous neoplasms should undergo additional genetic testing to rule out MAP, as well as Muir-Torre and Lynch syndrome.
Sebaceous carcinoma in a 54-year-old Black African man after cancer chemotherapy: a case report.
J Med Case Rep
March 2024
Department of Surgery, Obafemi Awolowo University, Ile-Ife, Osun State, Nigeria.
Article Synopsis
- Sebaceous carcinoma is a rare aggressive tumor of skin glands, with no cases reported in the last decade at one medical center, particularly among Black Africans.
- A 55-year-old African man experienced a growth on his eyelid for 8 months, which bled spontaneously, following a history of rectal cancer treatment.
- The tumor was diagnosed as sebaceous carcinoma through histological examination after surgical excision, and the patient is currently doing well.
Androgen Receptor Immunohistochemistry is Superior to PRAME for the Differentiation of Sebaceous Carcinoma From Primary Cutaneous Basaloid Mimics.
Am J Dermatopathol
April 2024
Pathologists, Department of Pathology, Brigham and Women's Hospital, Boston, MA.
Article Synopsis
- Cutaneous sebaceous neoplasia includes a range of tumors from benign to malignant, with the key characteristic being sebaceous differentiation, although poorly-differentiated sebaceous carcinoma can resemble other skin tumors.
- Accurate classification of sebaceous carcinoma is important for diagnosis and its potential link to Muir-Torre syndrome, with androgen receptor (AR) showing better sensitivity and specificity than Preferentially expressed Antigen in MElanoma (PRAME) for diagnosis.
- PRAME expression is infrequent in poorly differentiated sebaceous carcinoma and has low sensitivity (22%), while AR shows moderate sensitivity (66%) and high specificity (92%), indicating AR is a superior diagnostic marker.
Muir-Torre Syndrome with Novel Mutation in the MSH2 Gene.
Acta Dermatovenerol Croat
December 2023
Eda Ustaoglu, MD, University of Health Sciences, Bursa City Hospital, Dogankoy District, 16110 Nilufer, Bursa, Turkey;
Article Synopsis
- * It results from mutations in mismatch repair genes that lead to various internal malignancies, mostly affecting organs like the colon, endometrium, and breast.
- * The identification of skin tumors is crucial for diagnosing MST and facilitating the early detection of serious internal cancers, as demonstrated by a patient with sebaceous adenomas and a newly found genetic mutation.
Expanding the Spectrum of Skin Neoplasms in Muir-Torre Syndrome: Beyond Sebaceous Tumours.
Am J Dermatopathol
March 2024
Pathology Department, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.
Recurrent colon cancer in a patient with Muir-Torre syndrome: a case report.
J Surg Case Rep
February 2024
University of Illinois Hospital and Health Sciences System, Department of Colon and Rectal Cancer Surgery, 1740 W Taylor St, Chicago, IL 60612, United States.
Muir-Torre syndrome (MTS) is a rare subtype of hereditary nonpolyposis colorectal cancer syndrome caused by a defect in DNA mismatch repair leading to microsatellite instability. It is characterized by the presence of at least one sebaceous gland tumor and one internal malignancy, most commonly colorectal and endometrial tumors. These patients have a high propensity for tumorigenesis, and while strict screening protocols are in place, there are only two cases that describe the management approach to recurrent colon cancer.
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