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Dermatol Online J ; 18(5): 3, 2012 May 15.
Article in English | MEDLINE | ID: mdl-22630573

ABSTRACT

The Muir-Torre Syndrome is characterized by the clinical constellation of sebaceous neoplasms, keratoacanthomas, and internal malignancies caused by a defect in DNA mismatch repair. Another mismatch repair defect causes Turcot syndrome, which manifests with colorectal and central nervous system neoplasms. We wish to report a case in which the manifestations of both syndromes were observed in the same patient. We further discuss the possible genetic basis for this overlap.


Subject(s)
Astrocytoma/diagnosis , Brain Neoplasms/diagnosis , Colonic Neoplasms/diagnosis , Colorectal Neoplasms/diagnosis , Muir-Torre Syndrome/diagnosis , Neoplasms, Multiple Primary/diagnosis , Neoplastic Syndromes, Hereditary/diagnosis , Sebaceous Gland Neoplasms/diagnosis , Adaptor Proteins, Signal Transducing/genetics , Adenocarcinoma, Sebaceous/diagnosis , Brain Neoplasms/genetics , Colorectal Neoplasms/genetics , DNA Mismatch Repair , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Muir-Torre Syndrome/genetics , MutL Protein Homolog 1 , MutS Homolog 2 Protein/genetics , Mutation , Neoplasms, Multiple Primary/genetics , Neoplastic Syndromes, Hereditary/genetics , Nuclear Proteins/genetics , Pedigree
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