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http://dx.doi.org/10.1093/ced/llad138 | DOI Listing |
Cureus
December 2023
Rehabilitation Medicine, Moseley Hall Hospital, Birmingham, GBR.
Acute necrotising encephalitis (ANE) is a rare and life-threatening disorder typically associated with viral pathogens triggering an inflammatory response. It is characterised by rapid neurological deterioration linked to a cytokinetic storm which radiologically manifests with cerebral radiological changes. We present a unique case not previously documented of an immunocompetent 23-year-old male who survived the course of ANE, with widespread involvement of the brain including the deep white matter, cortex, superior frontal gyrus, occipital lobe and cerebellum.
View Article and Find Full Text PDFEur J Med Genet
May 2022
Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany. Electronic address:
Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago.
View Article and Find Full Text PDFCase Rep Dermatol
January 2022
Dermatology, University of Florida, Gainesville, Florida, USA.
Macular lymphocytic arteritis (MLA) is an indolent cutaneous small-medium-vessel vasculitis characterized by widespread asymptomatic livedo racemosa. A number of serologic abnormalities have been reported including an elevated erythrocyte sedimentation rate and antibodies associated with antiphospholipid antibody syndrome. We present a case of MLA with multiple serologic abnormalities, including those that have yet to be reported, such as anti-U1 ribonucleotide protein, anti-RNA polymerase III, anti-smith, and anti-proteinase 3 antibodies.
View Article and Find Full Text PDFPLoS One
November 2021
Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
Background: Sneddon syndrome (SS) is defined by widespread livedo reticularis (LR) and stroke. There is no single diagnostic test for SS and diagnosis can be solely based on clinical features. This cross-sectional case-control study aimed to determine the diagnostic value of skin biopsies in SS patients.
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