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Open Access Publications from the University of California

Novel mutation in the fumarate hydratase gene in a patient with Reed syndrome

  • Author(s): Smith, S
  • Casady, M
  • Driscoll, MS
  • et al.
Creative Commons 'BY-NC-ND' version 4.0 license

Reed syndrome is an autosomal dominant disorder characterized by cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma caused by mutations in the fumarate hydratase gene. Dermatologic evaluation is often the first or only opportunity to discover the diagnosis of Reed syndrome in affected patients, which may prove to be life-saving. We present a 40-year-old woman with history of large uterine leiomyomas who presented with a two-year history of a pruritic papular eruption on the left neck refractory to topical corticosteroids. After histopathologic examination and genetic work-up, the patient was found to have a novel mutation in the fumarate hydratase gene and was subsequently diagnosed with Reed syndrome.

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