A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia
S Duchatelet, S Pruvost, S de Veer, S Fraitag… - JAMA …, 2014 - jamanetwork.com
Importance Olmsted syndrome (OS) is a rare keratinizing disorder characterized by
excessive epidermal thickening of the palms and soles, with clinical and genetic …
excessive epidermal thickening of the palms and soles, with clinical and genetic …
Two familial cases of Olmsted‐like syndrome with a G573V mutation of the TRPV3 gene
YP Zhi, J Liu, JW Han, YP Huang… - Clinical and …, 2016 - academic.oup.com
Olmsted syndrome (OS) is a rare disease, characterized by symmetrical, sharply defined,
hyperkeratotic, mutilating plaques on the palms and soles, which are associated with …
hyperkeratotic, mutilating plaques on the palms and soles, which are associated with …
[PDF][PDF] Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
JY Choi, SE Kim, SE Lee, SC Kim - Yonsei medical journal, 2018 - synapse.koreamed.org
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe
palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus …
palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus …
[HTML][HTML] Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome
Olmsted syndrome (OS) is a rare congenital disorder characterized by palmoplantar and
periorificial keratoderma, alopecia in most cases, and severe itching. The genetic basis for …
periorificial keratoderma, alopecia in most cases, and severe itching. The genetic basis for …
Use of epidermal growth factor receptor inhibitor erlotinib to treat palmoplantar keratoderma in patients with Olmsted syndrome caused by TRPV3 mutations
C Greco, S Leclerc-Mercier, S Chaumon… - JAMA …, 2020 - jamanetwork.com
Importance Olmsted syndrome is a genodermatosis characterized by painful and mutilating
palmoplantar keratoderma (PPK) that progresses from infancy onward and lacks an effective …
palmoplantar keratoderma (PPK) that progresses from infancy onward and lacks an effective …
[HTML][HTML] Olmsted syndrome: exploration of the immunological phenotype
Background Olmsted syndrome is a rare congenital skin disorder presenting with periorifical
hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated …
hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated …
Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3
MK Agarwala, R George, R Pramanik… - British Journal of …, 2016 - academic.oup.com
DEAR EDITOR, Olmsted syndrome (OS; MIM# 614594), is a rare genetic skin disorder, with~
50 cases reported in the literature. 1 Most cases are sporadic although familial cases with …
50 cases reported in the literature. 1 Most cases are sporadic although familial cases with …
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3
A Kariminejad, M Barzegar… - Clinical and …, 2014 - academic.oup.com
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by palmoplantar
keratoderma, periorificial hyperkeratotic lesions and alopecia. Constriction of digits …
keratoderma, periorificial hyperkeratotic lesions and alopecia. Constriction of digits …
[HTML][HTML] A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome
C Ni, M Yan, J Zhang, R Cheng, J Liang, D Deng… - Scientific reports, 2016 - nature.com
Olmsted syndrome (OS) is a rare keratinization disorder, typically characterized by two
primary diagnostic hallmarks—mutilating palmoplanter and periorificial keratoderma …
primary diagnostic hallmarks—mutilating palmoplanter and periorificial keratoderma …
[HTML][HTML] Expanding the phenotypic spectrum of Olmsted syndrome
NJ Wilson, C Cole, LM Milstone… - The Journal of …, 2015 - ncbi.nlm.nih.gov
Congenita Project for the evaluation of painful plantar keratoderma, but lacking
pseudoainhum or significant periorificial keratoderma. In each case, after no mutations were …
pseudoainhum or significant periorificial keratoderma. In each case, after no mutations were …