PubMed · 2009 · 12 citations · 9 references
MedicineMolecular GeneticsOncologyHuman GeneticsMolecular OncologyNeoplasiaColorectal CancerGenetic DisordersGenetic SyndromesHereditary Cancer SyndromesMalignant NeoplasmsSyndromic GenodermatosesCancer Susceptibility SyndromesGenitourinary MalignancyGerm Cell MutationsHereditary Colorectal Cancer SyndromesSebaceous DifferentiationSebaceous Neoplasms
Muir-Torre syndrome is an autosomal dominant genodermatosis associated with sebaceous neoplasms and visceral malignancies. Characteristic sebaceous neoplasms include sebaceous adenoma, sebaceous carcinoma, sebaceoma, and keratoacanthoma with sebaceous differentiation. The most common visceral malignancies are colorectal and genitourinary tumors. Investigations into the molecular genetics of Muir-Torre Syndrome have revealed an association with germ-line mutations in hMSH2 and hMLH1 genes. The clinical and histological features of a patient with Muir-Torre syndrome who had two sebaceous adenomas, multiple basal cell carcinomas, and frontal bossing in association with colon cancer are presented in this report.
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Philip R Cohen, Steven R. Kohn, David A. Davis et al. · Dermatologic Clinics · 1995 · 93 citations
An Illustrative Case of Muir-Torre Syndrome
G. Marazza, Isabelle Masouyé, Sophia Taylor et al. · Archives of Dermatology · 2006 · 34 citations