Results 11 to 20 of about 4,034 (148)

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   +3 more sources

Olmsted syndrome [PDF]

Indian Journal of Ophthalmology, 2022
Aakash A Bhayana, Priyanka Prasad, Amber A Bhayana   +2 more
doaj   +4 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   +3 more sources

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   +8 more sources

Olmsted syndrome with lateral supraciliary madarosis and clubbing: A rare case report

Indian Dermatology Online Journal, 2018
Olmsted syndrome (OS) is a rare congenital, mutilating palmoplantar keratoderma first described by Olmsted in 1927. It starts in the neonatal period or in childhood, and has a slow but progressive disabling course. We report the case of a 16-year-old boy
Md Zeeshan, Abhijeet K Jha, R. K. P Chaudhary   +2 more
doaj   +3 more sources

Olmsted Syndrome in a Family.

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   +5 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

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