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Olmsted Syndrome [PDF]

Case Reports in Dermatological Medicine, 2012
Olmsted syndrome is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma. It was first described by Olmsted in 1927. The diagnosis of this rare disease depends on clinical features like symmetrical involvement of keratoderma of
Renata Elise Tonoli, Damiê De Villa, Renata Hübner Frainer, Luana Pizzarro Meneghello, Nelson Ricachnevsky, Maurício de Quadros   +5 more
doaj   +6 more sources

Olmsted syndrome [PDF]

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

Olmsted syndrome: Report of two cases

Indian Journal of Dermatology, 2011
Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female
G K Tharini, N Hema, S Jayakumar, B Parveen   +3 more
doaj   +4 more sources

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report [PDF]

Frontiers in Medicine
Olmsted syndrome (OS) is a rare disorder characterized by a mutilating palmoplantar keratoderma and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. Recently, transient receptor potential vanilloid 3 (TRPV3) mutations
Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui, Hongzhou Cui   +5 more
doaj   +4 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   +4 more sources

Treatment of TRPV3 mutation-associated Olmsted syndrome with erlotinib [PDF]

JAAD Case Reports, 2022
Kathleen E. Spitz, MD, MBA, Lena Chu, BS, Leslie P. Lawley, MD   +2 more
doaj   +4 more sources

Successful treatment of an MBTPS2-linked Olmsted syndrome patient using erlotinib [PDF]

JAAD Case Reports
Afsaneh Sadeghzadeh-Bazargan, MD, Nastaran Khodakarim, MD, Meysam Nazari Liafuii, MD, Roya Zeinali, MD, Alireza Safaei, MD, Leila Youssefian, PhD, Abbas Dehghani, MD, Hassan Vahidnezhad, PhD   +7 more
doaj   +4 more sources

Case of olmsted syndrome with essential thrombocytosis misdiagnosed as acrodermatitis enteropathica

Indian Journal of Dermatology, 2021
Olmsted syndrome is a rare genodermatosis. Palmoplantar keratoderma and periorificial keratodermic plaques are the most important clinical findings.
Filiz Topaloglu Demir, Ceyda Çaytemel, Nazlı Caf, Zafer Türkoğlu, Mesut Ayer, Nesimi Büyükbabani   +5 more
doaj   +2 more sources

Pathogenesis and management of TRPV3-related Olmsted syndrome [PDF]

Frontiers in Genetics
Olmsted syndrome is characterized by symmetrically distributed, destructive, inflammatory palmoplantar keratoderma with periorificial keratotic plaques, most commonly due to gain-of-function mutations in the transient receptor potential vanilloid 3 ...
Antong Lu, Antong Lu, Antong Lu, Antong Lu, Kezhen Li, Kezhen Li, Kezhen Li, Kezhen Li, Cong Huang, Cong Huang, Cong Huang, Bo Yu, Bo Yu, Bo Yu, Bo Yu, Bo Yu, Weilong Zhong, Weilong Zhong, Weilong Zhong   +18 more
doaj   +2 more sources

Mutilating keratoderma with concomitant alopecia and keratoses follicularis spinulosa decalvans: X-linked olmsted syndrome and its response to isotretinoin

Indian Dermatology Online Journal, 2017
We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome.
Gunjan Verma, Kabir Sardana, R K Gautam
doaj   +2 more sources