Muir-torre syndrome: The importance of a detailed family history

Christopher K.H. Burris; Maria E. Rodriguez; Meisha L. Raven; Devasis N. Reddy; Yaohui G. Xu; Janey L. Wiggs; Heather D. Potter; Daniel M. Albert

doi:10.1159/000500662

Muir-torre syndrome: The importance of a detailed family history

Christopher K.H. Burris, Maria E. Rodriguez, Meisha L. Raven, Devasis N. Reddy, Yaohui G. Xu, Janey L. Wiggs, Heather D. Potter, Daniel M. Albert

Ophthalmology

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Abstract

Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies. Due to the rarity of the syndrome there are no firm guidelines on how and when to test patients with its typical skin lesions. We describe a case that highlights the importance of a detailed family history.

Original language	English (US)
Pages (from-to)	180-185
Number of pages	6
Journal	Case Reports in Ophthalmology
Volume	10
Issue number	2
DOIs	https://doi.org/10.1159/000500662
State	Published - May 1 2019

Keywords

Enzyme replacement therapy
Hunter syndrome
Idursulfase
Mucopolysaccharidosis type II
Recovery
Vision

ASJC Scopus subject areas

Ophthalmology

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10.1159/000500662

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title = "Muir-torre syndrome: The importance of a detailed family history",

abstract = "Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies. Due to the rarity of the syndrome there are no firm guidelines on how and when to test patients with its typical skin lesions. We describe a case that highlights the importance of a detailed family history.",

keywords = "Enzyme replacement therapy, Hunter syndrome, Idursulfase, Mucopolysaccharidosis type II, Recovery, Vision",

author = "Burris, {Christopher K.H.} and Rodriguez, {Maria E.} and Raven, {Meisha L.} and Reddy, {Devasis N.} and Xu, {Yaohui G.} and Wiggs, {Janey L.} and Potter, {Heather D.} and Albert, {Daniel M.}",

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doi = "10.1159/000500662",

language = "English (US)",

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T2 - The importance of a detailed family history

AU - Burris, Christopher K.H.

AU - Rodriguez, Maria E.

AU - Raven, Meisha L.

AU - Reddy, Devasis N.

AU - Xu, Yaohui G.

AU - Wiggs, Janey L.

AU - Potter, Heather D.

AU - Albert, Daniel M.

PY - 2019/5/1

Y1 - 2019/5/1

N2 - Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies. Due to the rarity of the syndrome there are no firm guidelines on how and when to test patients with its typical skin lesions. We describe a case that highlights the importance of a detailed family history.

AB - Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies. Due to the rarity of the syndrome there are no firm guidelines on how and when to test patients with its typical skin lesions. We describe a case that highlights the importance of a detailed family history.

KW - Enzyme replacement therapy

KW - Hunter syndrome

KW - Idursulfase

KW - Mucopolysaccharidosis type II

KW - Recovery

KW - Vision

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Muir-torre syndrome: The importance of a detailed family history

Abstract

Keywords

ASJC Scopus subject areas

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