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

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)180-185
Number of pages6
JournalCase Reports in Ophthalmology
Volume10
Issue number2
DOIs
StatePublished - May 1 2019

Keywords

  • Enzyme replacement therapy
  • Hunter syndrome
  • Idursulfase
  • Mucopolysaccharidosis type II
  • Recovery
  • Vision

ASJC Scopus subject areas

  • Ophthalmology

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  • Cite this

    Burris, C. K. H., Rodriguez, M. E., Raven, M. L., Reddy, D. N., Xu, Y. G., Wiggs, J. L., Potter, H. D., & Albert, D. M. (2019). Muir-torre syndrome: The importance of a detailed family history. Case Reports in Ophthalmology, 10(2), 180-185. https://doi.org/10.1159/000500662