Muir-Torre syndrome

Daniel Navi, Akhil Wadhera, Maxwell A Fung, Nasim Fazel

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

A 65-year-old man with a history of multiple neoplastic and preneoplastic 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.

Original languageEnglish (US)
Article number4
JournalDermatology Online Journal
Volume12
Issue number5
StatePublished - 2006

Fingerprint

Muir-Torre Syndrome
Sebaceous Gland Neoplasms
Negative Staining
Neoplasms
DNA Mismatch Repair
Proteins
Neck
Head
Carcinoma
Biopsy
Skin
Mutation

ASJC Scopus subject areas

  • Dermatology

Cite this

Muir-Torre syndrome. / Navi, Daniel; Wadhera, Akhil; Fung, Maxwell A; Fazel, Nasim.

In: Dermatology Online Journal, Vol. 12, No. 5, 4, 2006.

Research output: Contribution to journalArticle

Navi, D, Wadhera, A, Fung, MA & Fazel, N 2006, 'Muir-Torre syndrome', Dermatology Online Journal, vol. 12, no. 5, 4.
Navi, Daniel ; Wadhera, Akhil ; Fung, Maxwell A ; Fazel, Nasim. / Muir-Torre syndrome. In: Dermatology Online Journal. 2006 ; Vol. 12, No. 5.
@article{61695a95e3b14c1d9088485c49026864,
title = "Muir-Torre syndrome",
abstract = "A 65-year-old man with a history of multiple neoplastic and preneoplastic 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.",
author = "Daniel Navi and Akhil Wadhera and Fung, {Maxwell A} and Nasim Fazel",
year = "2006",
language = "English (US)",
volume = "12",
journal = "Dermatology Online Journal",
issn = "1087-2108",
publisher = "Department of Dermatology UC Davis",
number = "5",

}

TY - JOUR

T1 - Muir-Torre syndrome

AU - Navi, Daniel

AU - Wadhera, Akhil

AU - Fung, Maxwell A

AU - Fazel, Nasim

PY - 2006

Y1 - 2006

N2 - A 65-year-old man with a history of multiple neoplastic and preneoplastic 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.

AB - A 65-year-old man with a history of multiple neoplastic and preneoplastic 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.

UR - http://www.scopus.com/inward/record.url?scp=33749183883&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33749183883&partnerID=8YFLogxK

M3 - Article

C2 - 16962019

AN - SCOPUS:33749183883

VL - 12

JO - Dermatology Online Journal

JF - Dermatology Online Journal

SN - 1087-2108

IS - 5

M1 - 4

ER -