Results 11 to 20 of about 4,063 (129)

Olmsted syndrome [PDF]

Indian Journal of Dermatology, 2008
Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we
Kumar Pramod, Sharma P, Kar H
doaj   +4 more sources

Olmsted syndrome [PDF]

Indian Journal of Ophthalmology, 2022
Aakash A Bhayana, Priyanka Prasad, Amber A Bhayana   +2 more
doaj   +4 more sources

Comment on “Olmsted Syndrome” [PDF]

Case Reports in Dermatological Medicine, 2020
Solene Gatault, Brian Kirby, Dina Danso-Abeam   +2 more
doaj   +5 more sources

Hypotrichosis in a child with olmsted syndrome [PDF]

Indian Dermatology Online Journal, 2018
David Polly, Hima Gopinath, Kaliaperumal Karthikeyan   +2 more
doaj   +4 more sources

Olmsted syndrome: clinical, molecular and therapeutic aspects [PDF]

Orphanet Journal of Rare Diseases, 2015
Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide.
Alain Hovnanian
exaly   +5 more sources

Structural diversity of heat-sensing channel TRPV3 with Olmsted syndrome mutations [PDF]

Nature Communications
Mutations in TRPV3, a temperature-sensitive ion channel critical for skin physiology, cause severe genodermatosis called Olmsted syndrome (OS). Here we integrate single-channel recordings and cryo-EM to characterize five OS mutants.
Jeffrey Khau, Rutambhara Purohit, Kirill D. Nadezhdin, Irina A. Talyzina, Alexander I. Sobolevsky   +4 more
doaj   +2 more sources

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma [PDF]

Frontiers in Oncology
Olmsted syndrome (OS) is a rare congenital skin disorder, typically characterized by symmetrical, severe palmoplantar and periorificial keratoderma, often accompanied by alopecia, and onychodystrophy, with varying degrees of pruritus and pain.
Yangyang Hao, Rong Wu, Xi Chen, Yunjia Shen, Mengwei Chou, Jianqiang Yang   +5 more
doaj   +2 more sources

Olmsted syndrome in three siblings

Indian Journal of Paediatric Dermatology, 2017
Olmsted syndrome (OS) is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma, first described by Olmsted in 1927, characterized by clinical features such as symmetrical involvement of keratoderma of the palms and soles and the
Mrinal Gupta
doaj   +2 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