Background: Olmsted syndrome is a rare and complex skin disorder affecting 46 (published) infants as of 2012. The infants affected in this case were born premature at 28 weeks' gestation. Infants affected by this syndrome demonstrate numerous plaques on several specific areas of the skin. Common treatments include exfoliation in addition to psoriasis treatments. The extremely fragile nature of the premature infants' skin complicates treatment modalities.
Clinical Findings: The progression of the infants' dermatologic findings and plaque formation is discussed in this case study.
Primary Diagnosis: The primary diagnosis of Olmsted syndrome was made with the assistance of a multidisciplinary team to work through several differential diagnoses presenting with severe forms of palmoplantar keratoderma.
Interventions: The management of skin plaques in twin premature infants is presented in this case study. An evidence-based approach, utilizing the model of family-centered care, is presented with multidisciplinary involvement and an outline of the specific plan of care for the extensive skin care regimen used.
Outcomes: An interdisciplinary skin care regimen was created to provide consistency in transition from hospital to home. Using a consistent approach, the plaques were able to be softened and many removed. Continual maintenance is required to manage continual buildup of skin plaques.
Practice Recommendations: Premature infants are at increased risk for infection due to the immaturity of their skin. The complexity of their skin complicates the ability to recognize and care for rare skin disorders. This case study illuminates the practicality of a consistent and evidence-based approach to a complex and rare skin disorder.
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http://dx.doi.org/10.1097/ANC.0000000000000942 | DOI Listing |
J Rheumatol
January 2025
Floranne C. Ernste MD, Division of Rheumatology, Mayo Clinic College of Medicine and Science, Rochester, MN, USA.
Objective: Population-based epidemiology studies about antisynthetase syndrome (ASSD) are lacking. Our aims were to determine the incidence and prevalence of ASSD and assess malignancy risk among patients following ASSD diagnosis.
Methods: A retrospective, population-based cohort of adults with incident ASSD residing in Olmsted County, Minnesota, in 1998-2019 was assembled.
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 PDFJ Dermatol Sci
January 2025
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:
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.
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.
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