Results 21 to 30 of about 1,354,083 (149)

Muir-Torre Syndrome Associated With a Cryptic Intronic MSH2 Variant Identified via Whole-Genome Sequencing: A Case Report. [PDF]

Pathol Int
Pathological suspicion persisted despite negative multigene panel testing in a patient with synchronous sebaceous and colonic tumors showing concordant MSH2/MSH6 loss. Whole‐genome sequencing identified a cryptic intronic MSH2 variant (c.2459‐12A>G), and RNA analysis confirmed aberrant splicing with protein truncation. This case highlights the value of
Noda K, Kurohama H, Matsuda K, Kinoshita A, Mishima H, Matsumoto M, Matsuda R, Ueki N, Kishikawa M, Miura K, Nonaka T, Yoshiura KI, Matsumoto K, Nakashima M.   +13 more
europepmc   +2 more sources

Genetic heterogeneity in a patient with Muir-Torre syndrome [PDF]

JAAD Case Reports, 2020
Ruonan Zhang, MD, PhD, Chinmoy Bhate, MD, Donghong Cai, MD, PhD   +2 more
doaj   +2 more sources

Muir Torre syndrome and in vitro fertilization: One family's experience [PDF]

JAAD Case Reports, 2020
Surget Cox, MD, Janellen Smith, MD
doaj   +2 more sources

Muir-Torre syndrome: A case report and review of the literature

The Turkish Journal of Gastroenterology, 2012
Muir-Torre syndrome is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous gland neoplasm associated with visceral malignancies.
Gökhan OKAN, Pervin VURAL, Ümit İNCE, Aziz YAZAR, Cihan URAS, Murat SARUÇ   +5 more
doaj   +2 more sources

Muir-Torre syndrome in Fitzpatrick skin phototype V assessed by dermoscopy and reflectance confocal microscopy. [PDF]

Skin Res Technol
Skin Research and Technology, Volume 30, Issue 8, August 2024.
Orloff J, Cabral P, Zhou L, Piontkowski AJ, Powers CM, Niedt G, Farnetani F, Gulati N.   +7 more
europepmc   +2 more sources

Sebaceous Neoplasms

Diagnostics, 2023
Sebaceous neoplasms describe a group of tumors with sebaceous differentiation commonly seen in lesions located primarily in the face and neck. The majority of these lesions are benign, while malignant neoplasms with sebaceous differentiation are uncommon.
Ilias Papadimitriou, Efstratios Vakirlis, Elena Sotiriou, Katerina Bakirtzi, Aimilios Lallas, Demetrios Ioannides   +5 more
doaj   +1 more source

Case for diagnosis. Verrucous plaque on the pubic region, [PDF]

Anais Brasileiros de Dermatologia, 2021
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 ...
Diego Henrique Morais Silva, Anna Karoline Gouveia de Oliveira, Neusa Yuriko Sakai Valente, Thais do Amaral Carneiro Cunha   +3 more
doaj   +1 more source

Multiple Eruptive Sebaceous Hyperplasia Secondary to Muir-Torre Syndrome Treated With Fractional Carbon Dioxide Laser Resurfacing Technique: A Case Report. [PDF]

Skin Res Technol
Skin Research and Technology, Volume 30, Issue 10, October 2024.
Leuzzi M, Zengarini C, La Placa M, Mussi M, Russo A, Melandri D, Pileri A, Piraccini BM, Neri I.   +8 more
europepmc   +2 more sources

Muir-Torre Syndrome with Novel Mutation in the MSH2 Gene [PDF]

, 2023
Muir-Torre syndrome (MST) is a rare autosomal dominant subtype of hereditary non-polyposis colorectal carcinoma. The diagnosis is established based on the coexistence of sebaceous gland tumors and visceral organ malignancies.
Isil Turhan, Ezgi, Agirgol, Senay, Sema Aymelek, Huri, Ustaoglu, Eda   +3 more
core   +1 more source

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

Clinical Case Reports, 2022
The Muir‐Torre Syndrome is a rare genodermatosis, defined by the occurrence of sebaceous neoplasia and internal malignancies and caused by mutations in the mismatch repair gene.
Mohamed Ben Rejeb, Sana Mokni, Maha Ben Rejeb, Nihed Abdelmoula, Baderedine Sriha, Habib Khochteli, Mohamed Denguezli   +6 more
doaj   +1 more source