Results 21 to 30 of about 4,034 (148)

Expanding the Phenotypic Spectrum of Olmsted Syndrome. [PDF]

J Invest Dermatol, 2015
Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O'Toole EA, Schwartz ME, Irwin McLean WH, Smith FJD.   +8 more
europepmc   +6 more sources

Papillomavirus-like particles as vectors for ex vivo gene therapy of the skin [PDF]

Molecular Therapy: Nucleic Acids
Ex vivo gene delivery to the skin utilizing retroviral vectors has been demonstrated to be a viable clinical option for replacement of defective genes.
Francesco Diversi, Juliette Dabin, Elisa Mazza, Mirko Rinaldin, Fernanda de Castro Reis, Jamie A. Hackett, Paul A. Heppenstall   +6 more
doaj   +2 more sources

Olmsted Syndrome

Indian Journal of Dermatology, 2002
Olmsted syndrome is a rare congential palmoplantar keratoderma with progressive periorificial hyperkeratotic lesions, alopecia areata, deafness, lental and nail changes. Only a few cases of this syndrome have been reported so far.
Mukhopadhyay Piyali, Biswas Nibir, Dutta R.N, Pal S   +3 more
doaj   +1 more source

Novel TRPV3 loss-of-function mutation in Olmsted syndrome with attenuated phenotype [PDF]

JAAD Case Reports
Travis Frantz, MD, David Kirwin, MD, Angela Crotty, MD, Willis Lyford, MD   +3 more
doaj   +2 more sources

Association of erlotinib and acitretin for the treatment of Olmsted syndrome with erythromelalgia in a pediatric patient [PDF]

Anais Brasileiros de Dermatologia
Luna Azulay-Abulafia, Joice Rodrigues Fagundes, Edgar Efren Ollague Cordova, Karla Diniz Pacheco, Alain Hovnanian   +4 more
doaj   +3 more sources

Atypical presentation of TRPV3 variant: Cerebral palsy and intellectual disability without dermatologic features of olmsted syndrome [PDF]

JAAD Case Reports
Mohamed Adil Shah Khoodoruth, MD, Widaad Nuzhah Chut-kai Khoodoruth, MD, Yasser Saeed Khan, MD   +2 more
doaj   +2 more sources

TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes [PDF]

Channels, 2017
Manoj Yadav, Chandan Goswami
exaly   +2 more sources

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene. [PDF]

Yonsei Med J, 2018
Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus.
Choi JY, Kim SE, Lee SE, Kim SC.
europepmc   +2 more sources

Olmsted Syndrome With Follicular Hyperkeratosis and Pityriasis Amiantacea

Actas Dermo-Sifiliográficas, 2022
S. Faizan, M. Adil, S.S. Amin, S. Rehman
doaj   +3 more sources

Semidominant Inheritance in Olmsted Syndrome [PDF]

Journal of Investigative Dermatology, 2016
Xu Cao, Huijun Wang, Mingyang Lee
exaly   +2 more sources