Results 21 to 30 of about 4,063 (129)

Palmoplantar Keratoderma: A Mechanism-Based Disease Classification [PDF]

Clinical, Cosmetic and Investigational Dermatology
Jia-Wei Liu,1,* Xiaerbati Habulieti,2,* Yue-Tong Qian,1 Xiao Ma,1 Yangyang Han,2 Dong-Lai Ma11Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing,
Liu JW, Habulieti X, Qian YT, Ma X, Han Y, Ma DL   +5 more
doaj   +2 more sources

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

Olmsted Syndrome in a Family. [PDF]

Int J Trichology, 2016
Olmsted syndrome (OS) is a rare disorder characterized by the combination of periorificial, keratotic plaques, and bilateral palmoplantar keratoderma. Synonyms are mutilating palmoplantar keratoderma with periorificial keratotic plaques (ORPHA659, MIM #614594 and #300918).
Konathan R, Alur SK.
europepmc   +4 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

Olmsted syndrome. [PDF]

J Dermatol Case Rep, 2013
Olmsted syndrome is a rare keratinization disorder characterized by a combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular hyperkeratosis and constriction ...
Attia AM, Bakry OA.
europepmc   +4 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
Chandan Goswami, Manoj Yadav
exaly   +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

Research Development in Patients with Olmsted Syndrome

罕见病研究, 2023
Olmsted syndrome (OS) is an extremely rare hereditary skin disease, that is usually characterized by mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques.
WEI Haoran, TAO Juan
doaj   +1 more source

Olmsted syndrome: exploration of the immunological phenotype. [PDF]

Orphanet J Rare Dis, 2013
Abstract Background Olmsted syndrome is a rare congenital skin disorder presenting with periorifical hyperkeratotic lesions and mutilating palmoplantar keratoderma, which is often associated with infections of the keratotic area. A recent study identified de novo mutations causing constitutive activation of TRPV3 as a
Danso-Abeam D, Zhang J, Dooley J, Staats KA, Van Eyck L, Van Brussel T, Zaman S, Hauben E, Van de Velde M, Morren MA, Renard M, Van Geet C, Schaballie H, Lambrechts D, Tao J, Franckaert D, Humblet-Baron S, Meyts I, Liston A.   +18 more
europepmc   +6 more sources