Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants. [PDF]
Objective Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characterize the diagnostic utility of a plasma ADA2 enzyme activity assay and understand the implications of residual ADA2 ...
Yue J +55 more
europepmc +2 more sources
Livedoid vasculopathy – A diagnostic and therapeutic challenge
Livedoid vasculopathy is a rare, chronic-recurrent occlusive disorder in the microcirculation of dermal vessels. The clinical appearance is characterized by Livedo racemosa, painful ulceration, located in the distal parts of the lower extremities ...
Maria Rosa Burg +3 more
doaj +1 more source
Sharper definitions, blurred lines: The clinical aftermath of the revised antiphospholipid syndrome criteria. [PDF]
HemaSphere, Volume 10, Issue 3, March 2026.
Merz LE, Fogerty AE.
europepmc +2 more sources
Cognitive and psychiatric signs revealing Sneddon syndrome: A case report
Key Clinical Message The diagnosis of Sneddon Syndrome should be considered in adults with young‐onset dementia accompanied by neuropsychiatric signs and livedo racemosa. Magnetic resonance imaging and cerebral angiography are essential.
Mehdi Karoui +4 more
doaj +1 more source
Catastrophic Antiphospholipid Syndrome: A Rare but Life-Threatening Thrombotic Storm-A Case Report and Literature Review. [PDF]
Catastrophic antiphospholipid syndrome (CAPS) is a rare, life‐threatening variant of antiphospholipid syndrome (APS) characterized by rapid, widespread thrombosis leading to multiorgan failure. Affecting less than 1% of APS patients, CAPS is associated with a high mortality rate of 30%–50%, necessitating prompt diagnosis and aggressive treatment.
Morecroft R +3 more
europepmc +2 more sources
Sneddon Syndrome with the Initial Presentation of Intracranial Hemorrhage: A Case Report [PDF]
Sneddon syndrome (SS) is characterized by chronic, progressive arteriopathy, which causes ischemic stroke and skin lesions. It seems that thrombotic or embolic processes in the vessels may be involved in the pathology of this syndrome.
Zohre Khodamoradi +2 more
doaj +1 more source
Reticulated violaceous patches in a 10-year-old boy [PDF]
Cassidy M. Nguyen, BS +4 more
doaj +2 more sources
Livedo racemosa secondary to hyaluronic acid injection [PDF]
Iatrogenic vascular occlusion secondary to filler injection, such as with hyaluronic acid, is a known but rare, entity. It typically occurs in the setting of facial cosmetic procedures but has also been described in the setting of osteoarthritis. We present a patient with ankle osteoarthritis who developed an asymmetric, reticular, livedoid eruption ...
Toussi, Atrin +2 more
openaire +4 more sources
Various dermatological manifestations have been observed in patients with Coronavirus disease (COVID-19) infection ranging from maculopapular rashes, urticaria, chickenpox-type lesions, chilblain-like, distal-limb ischemia, and livedo racemosa.
Bhupen Barman +6 more
doaj +1 more source
Serologic Abnormalities in Macular Lymphocytic Arteritis with Case Presentation
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 ...
Nicole R. Bender +4 more
doaj +1 more source

