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

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. PMID: 26632803 [PubMed - in process]

http://www.ncbi.nlm.nih.gov/pubmed/26632803?dopt=Abstract

Source: Dermatol Online J - December 5, 2015 Category: Dermatology Authors: Smith S, Casady M, Driscoll MS Tags: Dermatol Online J Source Type: research