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Strategic Approach to Heterogeneity Analysis of Cutaneous Adnexal Carcinomas Using Computational Pathology and Genomics.
JID Innov
November 2023
Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan.
Cutaneous adnexal tumors are neoplasms that arise from skin appendages. Their morphologic diversity and phenotypic variability with rare progression to malignancy make them difficult to diagnose and classify, and there is currently no established treatment strategy. To overcome these difficulties, this study investigated the transcription factor SOX9 expression, morphology, and genetics of skin adnexal tumors for understanding their biology, especially their histogenesis.
View Article and Find Full Text PDFComparison of Benign and Malignant Pilomatricomas Using Whole-exome Sequencing.
Cancer Genomics Proteomics
June 2021
Department of Pathology, Chungnam National University School of Medicine, Daejeon, Republic of Korea
Background: Malignant pilomatricoma (MP) is a rare cancer of the hair matrix with only a few cases reported in literature. Given the rarity of this cancer and the lack of relevant genetic data, very little is known about the nature of the molecular pathophysiology except the involvement of the Catenin Beta 1 (CTNNB1)/Wnt/β-catenin signaling pathway in some cases.
Materials And Methods: We describe the whole-exome genomic profiling of four samples from two patients: 1) an MP from patient I, 2) a coexisting benign pilomatricoma (BP) from patient I, 3) a BP from an age and location-matched control patient II, and 4) normal skin tissue from patient II.
Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome.
Dermatol Online J
January 2018
Department of Dermatology, Graduate School of Medicine, Nagasaki University, Nagasaki, Japan Osaka Red Cross Hospital, Osaka, Japan.
Rubinstein-Taybi syndrome (RTS) is an autosomaldominant hereditary disease, which contains many skeletal and organ anomalies as well as mental retardation. Although high incidence of keloids in RTS is known, it is difficult to find a detailed report on the clinical features of keloids. In the following letter, we report an RTS patient fulfilling diagnostic criteria whosuffered from both keloids and pilomatricoma.
View Article and Find Full Text PDFOrthokeratinized Odontogenic Cyst with an Associated Keratocystic Odontogenic Tumor Component and Ghost Cell Keratinization and Calcifications in a Patient with Gardner Syndrome.
Head Neck Pathol
June 2017
Division of Oral and Maxillofacial Pathology, School of Dentistry, University of Minnesota, 515 Delaware Street SE 16-206B, Minneapolis, MN, 55455, USA.
Gardner syndrome (GS) is caused by mutations in the APC and besides adenomatous colorectal polyps includes such manifestations as osteomas, epidermoid cysts (ECs) and occasionally multiple pilomatricomas. More than 50 % of ECs in patients with GS exhibit pilomatricoma-like ghost cell keratinization. The latter may be explained by the fact that the development of both GS and pilomatricoma is driven by activation of the Wnt/β-catenin signaling pathway.
View Article and Find Full Text PDFHybrid odontogenic ghost cell tumor and cutaneous pilomatrixoma: a highly unusual coexistence.
J Craniofac Surg
July 2012
Department of Oral and Maxillofacial Surgery, Dental School, University of Athens, Athens, Greece.
This article describes the first published case of coexistence in a child of a rare hybrid odontogenic ghost cell tumor and a solitary cutaneous pilomatrixoma. An 11-year-old boy presented with a large well-defined unilocular radiolucent lesion in the right posterior mandible. Marsupialization followed by enucleation of the remaining lesion at a later period was the treatment of choice.
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