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- W2022641922 abstract "<h3>Importance</h3> Olmsted syndrome (OS) is a rare keratinizing disorder characterized by excessive epidermal thickening of the palms and soles, with clinical and genetic heterogeneity. Approximately 50 cases have been reported, with the molecular basis described in only 9. Recently,<i>TRPV3</i>(transient receptor potential vanilloid 3) mutations were identified in autosomal-dominant OS in 7 sporadic cases and 1 familial case, whereas an<i>MBTPS2</i>(membrane-bound transcription factor protease, site 2) mutation was reported in X-linked recessive OS. We report a new sporadic case of severe, atypical OS and its underlying genetic basis. <h3>Observations</h3> Our patient is a young girl with severe nonmutilating (palmo)plantar keratoderma without periorificial keratotic plaques associated with intense acute flares of inflammation, itching, burning pain, vasodilatation, and redness of the extremities consistent with erythromelalgia. Whole exome sequencing of patient DNA identified a novel de novo heterozygous missense mutation within<i>TRPV3</i>, p.Leu673Phe, predicted to be damaging. <h3>Conclusions and Relevance</h3> This case study further implicates<i>TRPV3</i>in OS pathogenesis. In addition, previous reports of OS have not described erythromelalgia as a clinical feature. Its occurrence in our patient could be a chance event, but, if associated with OS, the features of erythromelalgia may expand the phenotypic spectrum of this rare syndrome." @default.
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- W2022641922 date "2014-03-01" @default.
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- W2022641922 title "A New<i>TRPV3</i>Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia" @default.
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- W2022641922 doi "https://doi.org/10.1001/jamadermatol.2013.8709" @default.
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