Muir-Torre syndrome.
A 65-year-old man with a history of multiple neoplastic and pre-neoplastic gastrointestinal lesions as well as urogenital carcinoma presented for evaluation of two asymptomatic skin-colored papules in the head and neck region. Biopsy revealed sebaceous neoplasms and immunohistochemical staining was negative for the presence of hMSH-2 protein in both specimens. These findings were consistent with a diagnosis of Muir-Torre syndrome in the setting of a prior history of visceral malignancies. Muir-Torre Syndrome is a rare autosomal dominant genodermatosis associated with mutations in mismatch repair proteins, hMSH-2 and hMLH-1, which predispose affected patients to visceral malignancies as well as sebaceous gland neoplasms.
Navi
Daniel
D
University of California Davis, Department of Dermatology, USA.
Wadhera
Akhil
A
Fung
Maxwell A
MA
Fazel
Nasim
N
D048868:Adaptor Proteins, Signal Transducing; D018266:Adenocarcinoma, Sebaceous / Q000235:genetics / Q000473:pathology; D000236:Adenoma / Q000235:genetics / Q000473:pathology; D002294:Carcinoma, Squamous Cell / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D004260:DNA Repair; D005770:Gastrointestinal Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D012626:Sebaceous Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein