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Pathogenesis and management of -related Olmsted syndrome.
Front Genet
December 2024
Department of Dermatology, Peking University Shenzhen Hospital, Shenzhen, China.
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 (TRPV3) gene, which involves multiple pathological functions of the skin, such as hyperkeratosis, dermatitis, hair loss, itching, and pain. Recent studies suggest that mutations of located in different structural domains lead to cases of varying severity, suggesting a potential genotype-phenotype correlation resulting from TRPV3 gene mutations. This paper reviews the genetics and pathogenesis of Olmsted syndrome, as well as the potential management and treatment.
View Article and Find Full Text PDFCorrigendum to "The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome" [J. Dermatol. Sci. (2024) S0923-1811(24)00214-7].
J Dermatol Sci
December 2024
Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China. Electronic address:
Natriuretic peptide levels and predicting risk of developing new diabetes mellitus and metabolic syndrome.
Diabetes Obes Metab
February 2025
Department of Cardiovascular Disease, Mayo Clinic, Rochester, Minnesota, USA.
Aims: Define the relationship between N-terminal atrial natriuretic peptide (NT-ANP) levels and incident metabolic syndrome and type 2 diabetes mellitus ('metabolic disease') in healthy adults and develop a risk prediction score.
Materials And Methods: Retrospective cohort study of Olmsted County Heart Function Study participants, a random sampling of county residents aged 45 years and older (n = 2042). Clinical data were collected during enrolment between 1997 and 2000 and upon follow-up 4 years later.
The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.
J Dermatol Sci
December 2024
Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China. Electronic address:
Background: Olmsted syndrome (OS) is a rare genodermatosis predominantly inherited in an autosomal dominant manner, typically arising from gain-of-function (GOF) variants in the transient receptor potential channel vanilloid 3 (TRPV3) gene.
Objective: This study aims to investigate potential mechanisms underlying OS in two cases presenting with an autosomal recessive inheritance pattern.
Methods: Next-generation sequencing panel was employed to identify TRPV3 variants.
Non-pachyonychia congenita conditions in the International Pachyonychia Congenita Research Registry.
Int J Dermatol
November 2024
Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
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