Results 41 to 50 of about 4,319 (167)

A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene [PDF]

, 2018
Muir-Torre syndrome (MTS) is a rare cancer-predisposing syndrome that is autosomal dominantly inherited and characterized by the development of sebaceous skin lesions (adenomas, epitheliomas, basaliomas and carcinomas).
Bouzourene, H., Gugerli, O., Halkic, N., Hutter, P., Monnerat, C., Vernez, M.   +5 more
core  

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America [PDF]

, 2017
Background: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected ...
A Giraldo, A Gomez, A Mendoza Sanchez, A Recalde, A Stella, A Umar, A Wagner, AD Clarizia, Adriana Della Valle, AL Moisio, Alexandra Martins, AM Wielandt, André Escremim de Paula, AR Cajal, BA Thompson, Benedito Mauro Rossi, BM Rossi, BM Rossi, C Castro-Mujica Mdel, C Castro-Mujica Mdel, C Houdayer, C Nique Carbajal, C Ortiz, C Sarroca, CA Vaccaro, CA Vaccaro, CA Vaccaro, Carlos Alberto Vaccaro, Carlos Sarroca, CG Rasuck, Claudia Barletta-Carrillo, CM Egoavil, Constantino Dominguez-Barrera, DD Buchanan, DE Germini, DV Viana, E Borras, Edenir Inêz Palmero, Eivind Hovig, Enrique Spirandelli, Erika Maria Monteiro-Santos, Evaluation of Genomic Applications in P, Prevention Working G, FC Silva da, Florencia Neffa, Florencia Spirandelli, Francisco López-Kostner, G Casey, G Chong, G Ponti, G Yeo, GH Garcia, H Hampel, H Kobayashi, H Song, Henrique de Campos Reis Galvão, HF Vasen, HF Vasen, Hélène Tubeuf, I Borelli, I Thiffault, IN Freitas de, J Norum, J Risco, JP Plazzer, JT Dunnen den, Julio Sanchez de Monte, K Alvarez, Karin Alvarez, L Perez-Cabornero, L. Lena Morillas, Luis Gustavo Capochin Romagnolo, M Aarnio, M Clendenning, M Cruz-Correa, M Dominguez-Valentin, M Nystrom-Lahti, M Pinheiro, M Pinheiro, M Rodriguez-Soler, M Roque, M Tanyi, MA Ramirez-Ramirez, MA RodriguezBigas, Maria del Carmen Castro-Mujica, MD Valentin, MD Valentin, Melva Gutiérrez Angulo, Mev Dominguez-Valentin, NJ Froggatt, Norma Teresa Rossi, O Soukarieh, P Ashton-Prolla, P Koehler-Santos, P Lastella, P Vahteristo, Pablo German Kalfayan, Patricia Ashton-Prolla, Patrik Wernhoff, Pål Møller, Richard Quispe, RP Kuiper, Rui Manuel Reis, S Gupta, Sabrina Daniela da Silva, Sergio Chialina, SMO Leite, Susana Revollo, Tamara Alejandra Piñero, V Alonso-Espinaco, W Sjursen, WE Jesus-Monge De, Ximena Taborga, Y Montenegro, Yenni Rodriguez   +113 more
core   +4 more sources

Primary and Secondary Grzybowski’s Generalized Eruptive Keratoacanthoma: A New Perspective on Management, Clinical Features, and Prognosis

International Journal of Dermatology, Volume 65, Issue 3, Page 456-463, March 2026.
ABSTRACT Grzybowski's generalized eruptive keratoacanthoma (GEKA) is a rare variant of keratoacanthomas, characterized by hundreds to thousands of lesions, accompanied by pruritus, mucosal involvement, and comorbidities. Our aim was to analyze the clinical presentation, associated comorbidities, treatment strategies, and outcomes of GEKA.
Nicholas Florin Kormos, Carina Maria Petrenciu, Alin Stefan Vizitiu, Raluca Ghețe, Umer Nadir, Adrian Lucian Baican, Stanislav N. Tolkachjov   +6 more
wiley   +1 more source

Extra ocular sebaceous carcinoma: A rare case report

Indian Dermatology Online Journal, 2011
Extra ocular Sebaceous Carcinoma is a rare malignancy when compared to Peri ocular variant and these are derived from sebaceous gland epithelium. The aggressive types of extra ocular sebaceous neoplasm are reported with lymph node and visceral metastasis
Karthika Natarajan, Reena Rai, Suma B Pillai   +2 more
doaj   +1 more source

Familial Associations of Colorectal Cancer with Other Cancers [PDF]

, 2017
Colorectal cancer (CRC) has a strong familial component which extends to discordant cancers (ie non-CRC tumors). This is best seen in cancer syndromes such as hereditary non-polyposis colorectal cancer (HNPCC) which predisposes to several tumor types ...
Hemminki, Akseli, Hemminki, Kari, Sundquist, Kristina, Yu, Hongyao   +3 more
core   +1 more source

Muir-Torre Syndrome: case report and molecular characterization

São Paulo Medical Journal
CONTEXT: Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and ...
Carolina Alejandra Rios, Ricardo Villalon, Jorge Munoz, Monica Acuna, Lucia Cifuentes   +4 more
doaj   +1 more source

Sebaceous carcinoma : a case report [PDF]

, 2018
El carcinoma de células sebáceas es un tumor maligno infrecuente de la piel. Se lo clasifica en ocular y extraocular. Su importancia radica en su agresividad con altas tasas de recurrencia y metástasis.
Abaca, María Celeste, Cantú Parra, Laura, Fernandez Tapia, María, Innocenti, Alicia Carolina, Vidal, Jorgelina Natalí   +4 more
core  

A Case of Hybrid Cellular Neurothekeoma and Perineurioma With a Folliculin Gene Mutation

Journal of Cutaneous Pathology, Volume 52, Issue 5, Page 374-378, May 2025.
ABSTRACT Hybrid peripheral nerve sheath tumors (PNSTs) are benign tumors that show features of more than one type of PNST. Benign cutaneous plexiform hybrid tumor of perineurioma and cellular neurothekeoma (BCPHTPCN) is a rare, recently described entity that shows various combinations of histomorphologic and immunophenotypic features of the PNSTs ...
Taylor J. Prechtel, Emma Brashear, Carina A. Dehner, Ahmed K. Alomari   +3 more
wiley   +1 more source

Deep intronic MSH2 variant confirms Muir-Torre subtype of Lynch syndrome

JID Innovations
Whole-genome sequencing can uncover clinically significant noncoding variants missed by standard germline testing, as demonstrated in this report in a patient with Muir–Torre syndrome, a subtype of Lynch syndrome.
Fiona Chan-Pak-Choon, Andrew Y. Shuen, Evan Weber, Lili Fu, Barbara Rivera, William D. Foulkes   +5 more
doaj   +1 more source

Recurrent GRHL fusions in a subset of sebaceoma: microscopic and molecular characterisation of eight cases

Histopathology, Volume 86, Issue 4, Page 571-584, March 2025.
Morphological features of RCOR1::GRHL2 adnexal tumour (case 4). Aims Sebaceous neoplasms constitute a group of adnexal tumours, including sebaceous adenoma, sebaceoma and sebaceous carcinoma. Although mismatch repair deficiency may be observed, the nature of the genetic alterations contributing to the development of most of these tumours is still ...
Mélanie Legrand, Baptiste Louveau, Nicolas Macagno, Maxence Mancini, Dmitry V Kazakov, Daniel Pissaloux, Franck Tirode, Anne Tallet, Samia Mourah, Quentin Lepiller, Arnaud de la Fouchardière, Pierre Sohier, Eric Frouin, Andreas von Deimling, Keisuke Goto, Bernard Cribier, Eduardo Calonje, Saleem Taibjee, Maxime Battistella, Thibault Kervarrec   +19 more
wiley   +1 more source