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Comprehensive insights of Sneddon syndrome: A clinical perspective.
J Cent Nerv Syst Dis
December 2024
Faculty of Medicine, The Hashemite University, Zarqa, Jordan.
Background: Sneddon's syndrome is a rare thrombotic vasculopathy characterized by the coexistence of both cerebrovascular events and livedo reticularis.
Objective: This review aims to raise awareness among physicians by discussing the whole clinical spectrum of the disease. Typically, Sneddon syndrome presents in middle-aged women with a cerebrovascular accident and a preexisting skin rash, which is livedo reticularis.
Dominant negative mutations cause ADA2 deficiency in heterozygous carriers.
medRxiv
December 2024
Laboratory Inborn errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Human ADA2 deficiency (DADA2) is an inborn error of immunity with a broad clinical phenotype which encompasses vasculopathy including livedo racemosa and lacunar strokes, as well as hemato-immunological features. Diagnosis is based on the combination of decreased serum ADA2 activity and the identification of biallelic deleterious alleles in the gene. DADA2 carriers harbor a single pathogenic variant in and are mostly considered healthy and asymptomatic.
View Article and Find Full Text PDFVascular Disturbances of the Skin in Critically Ill Patients: Lines, Dots, Patches.
Chest
December 2024
Louisiana State University School of Medicine, New Orleans - Baton Rouge Regional Campus. Electronic address:
When an understanding of pathogenesis exists, skin lesions that have the appearance of blood in the skin can provide insight into the mechanisms leading to a systemic process that results in cutaneous manifestations. Of the vascular disturbances of the skin that occur in critically ill patients, some result from a non-hemorrhagic process while occurs represent bleeding into the skin. The lesions of livedo, petechiae, purpura, and ecchymoses can be approached from such a perspective.
View Article and Find Full Text PDFSarcoid Vasculitis in the Skin: A Clinicopathologic Study of 8 Cases With Various Skin Lesions but the Common Unique Cannonball-like Vessel Destruction by Sarcoid Granulomas.
Am J Surg Pathol
November 2024
Department of Dermatology, Fukushima Medical University, Fukushima.
While the skin is a common target organ for sarcoidosis, cutaneous granulomatous vasculitis is rare among patients with sarcoidosis. Due to the lack of detailed studies on cutaneous sarcoid vasculitis, both dermatologists and pathologists remain unfamiliar with this rare but important vasculitic disorder. We clinicopathologically evaluated eight cases with biopsy-proven cutaneous vasculitis and cutaneous sarcoidosis and analyzed morphologic changes in the process of vasculitis for both small vessels and muscular vessels in detail.
View Article and Find Full Text PDFAn 80-year-old man presented to our hospital with worsening renal function and ambulation difficulties due to lower extremity symptoms that included livedo reticularis, gangrene, cyanosis, and ulcers in his legs. The patient was diagnosed with a cholesterol crystal embolism. Treatment with prednisolone and rosuvastatin was initiated; however, no improvements were observed in the patient's cutaneous symptoms or renal function.
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