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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 PDFLivedoid vasculopathy in hemoglobinopathy-associated chronic leg ulcers.
Ann Hematol
December 2024
Division of Hematology, Department of Medicine, UNC Chapel Hill School of Medicine, Chapel Hill, NC, United States of America.
Chronic leg ulceration is a debilitating manifestation of hemoglobinopathies, and best management is uncertain. Livedoid vasculopathy (LV) is a cutaneous non-inflammatory thrombotic vasculopathy treated with anticoagulation that has been identified in hemoglobinopathy-associated chronic leg ulceration. However, most patients with hemoglobinopathy-associated ulcers do not undergo workup for secondary causes, and the prevalence and relevance of LV is unclear.
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