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. 2015 Nov;135(11):2879-2883.
doi: 10.1038/jid.2015.217. Epub 2015 Jun 12.

Expanding the Phenotypic Spectrum of Olmsted Syndrome

Neil J Wilson  1 , Christian Cole  2 , Leonard M Milstone  3 , Ana E Kiszewski  4 , C David Hansen  5 , Edel A O'Toole  6 , Mary E Schwartz  7 , W H Irwin McLean  1 , Frances J D Smith  8
Affiliations

Expanding the Phenotypic Spectrum of Olmsted Syndrome

Neil J Wilson et al. J Invest Dermatol. 2015 Nov.
No abstract available

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Figures

Figure 1
Figure 1
Clinical features. Proband of Family 1: (a) severe calluses on the weight-bearing areas of the soles (at age 9), (b) thin nail plates with koilonychia (age 9), and (c) no perioral keratoderma and fine hair, age 12. Proband of Family 2: (d) calluses on the soles of the feet, (e) blisters and peeling of skin on the fingertips, and (f) lack of perioral hyperkeratosis. Proband of Family 3: (g) calluses on the soles, (h) koilonychia of nails, and (i) no perioral lesions. Proband of Family 5: (j) hyperkeratosis on the soles, (k) no palmar hyperkeratosis, and (l) sparse fragile hair, mild lateral perioral fissuring, and no oral leukokeratosis. Images are published with patients' consent.
See this image and copyright information in PMC

References

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    1. Danso-Abeam D, Zhang J, Dooley J et al. (2013) Olmsted syndrome: exploration of the immunological phenotype. Orphanet J Rare Dis 8:79. - PMC - PubMed
    1. Duchatelet S, Guibbal L, de Veer S et al. (2014. a) Olmsted syndrome with erythromelalgia caused by recessive TRPV3 mutations. Br J Dermatol 171:675–678 - PubMed
    1. Duchatelet S, Pruvost S, de Veer S et al. (2014. b) A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. JAMA Dermatol 150:303–306 - PubMed
    1. Eytan O, Fuchs-Telem D, Mevorach B et al. (2014) Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. J Invest Dermatol 136:1752–1754 - PubMed

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