Results 31 to 40 of about 4,034 (148)
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. [PDF]
Am J Hum Genet, 2012 Olmsted syndrome (OS) is a rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching. The genetic basis for OS remained unidentified.
Lin Z +20 more
europepmc +2 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
Mymensingh Medical Journal, 2007 Olmsted syndrome is a rare disorder characterized by symmetrical sharply marginated mutilating keratoderma of palms & soles & hyperkeratotic plaques around the body orifices, onychodystrophy, ainhum & amputation of digital phalanges, flextion deformities of the fingers, localized alopecia, leukokeratosis of the tongue, shortness of stature & laxity of ...
M E, Ali +3 more
openaire +2 more sources
Palmo-plantar keratoderma with debilitating pruritus
Indian Journal of Paediatric Dermatology, 2020 We describe two siblings with diffuse, mutilating palmo-plantar keratoderma suggestive of Olmsted syndrome, with significantly compromised quality of life in the form of inability to walk and grasp objects.
Vandana Kataria +2 more
doaj +1 more source
MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders
Journal of Translational Medicine, 2021 The MBTPS2 gene on the X-chromosome encodes the membrane-bound transcription factor protease, site-2 (MBTPS2) or site-2 protease (S2P) which cleaves and activates several signaling and regulatory proteins from the membrane.
Natarin Caengprasath +3 more
doaj +1 more source
Acta Pharmaceutica Sinica B, 2022 Genetic gain-of-function mutations of warm temperature-sensitive transient receptor potential vanilloid 3 (TRPV3) channel cause Olmsted syndrome characterized by severe itching and keratoderma, indicating that pharmacological inhibition of TRPV3 may hold
Hang Qi +5 more
doaj +1 more source
Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine
eLife, 2021 The multimodal sensory channel transient receptor potential vanilloid-3 (TRPV3) is expressed in epidermal keratinocytes and implicated in chronic pruritus, allergy, and inflammation-related skin disorders.
Qiang Liu +12 more
doaj +1 more source
Novel Insights into the Role of Keratinocytes-Expressed TRPV3 in the Skin
Biomolecules, 2023 TRPV3 is a non-selective cation channel that is highly expressed in keratinocytes in the skin. Traditionally, keratinocytes-expressed TRPV3 is involved in multiple physiological and pathological functions of the skin, such as itching, heat pain, and hair
Yaotao Guo +5 more
doaj +1 more source
Stability and Formulation of Erlotinib in Skin Creams
Molecules, 2022 Recent studies have highlighted the benefit of repurposing oral erlotinib (ERL) treatment in some rare skin diseases such as Olmsted syndrome. The use of a topical ERL skin treatment instead of the currently available ERL tablets may be appealing to ...
David Nguyen +7 more
doaj +1 more source
BMJ Open Ophthalmology, 2022 Purpose To determine whether metabolic syndrome (MetS) is a risk factor for various forms of optic neuropathy including non-arteritic anterior ischaemic optic neuropathy (NAION).Methods This population-based analysis identified patients ≥40 years of age ...
Launia J White +5 more
doaj +1 more source