Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory condition. Recognised features include vasculitis predominantly affecting medium sized vessels, livedoid skin rash, central and peripheral nervous system involvement, variable degrees of immunodeficiency, and marrow failure, amongst other clinical presentations. We present the case of a six year old male with DADA2 who presented with acute testicular ischaemia secondary to vasculitis, the first such description in DADA2.
Case Presentation: A six year old male presented acute right-sided testicular pain. His history included transient infantile neutropenia, resolved hepatosplenomegaly, and longstanding livedo racemosa, leading to screening and confirmation of DADA2 caused by homozygous c.139G > C (p.G47R) mutation of ADA2. As his only clinical feature was that of mild livedo racemosa with normal laboratory parameters at diagnosis, he was being actively monitored prior to starting any treatment. At a routine clinic follow-up a 24 h history of testicular pain was noted on systems review. He was afebrile, and his only physical signs were that of moderate livedo racemosa, and tenderness of the right testicle. Laboratory parameters revealed C-reactive protein (CRP) 8 mg/L (reference range [RR] < 20 mg/L); erythrocyte sedimentation rate (ESR) 28 mm/hr. (RR < 10); and serum amyloid A (SAA)5 mg/L (RR < 10). Ultrasound-scan of the scrotum revealed significantly reduced perfusion of the right testes, without torsion. Surgical scrotal exploration confirmed testicular ischaemia without torsion. Histology demonstrated ischaemic seminiferous tubules with intervening haemorrhage and acute inflammatory cells, consistent with vasculitis of the testis as the cause. He was treated with high dose intravenous methyl-prednisolone followed by a weaning course of oral prednisolone, and subcutaneous adalimumab (anti-tumour necrosis factor alpha, anti-TNFα). Repeat ultrasound-scan 3 weeks later revealed good testicular perfusion, with a small area of focal infarction. At last follow-up (11 months post-event) he remained asymptomatic, on treatment with adalimumab.
Conclusion: The phenotype of DADA2 continues to expand, and we add testicular infarction to the features of DADA2. CRP and SAA cannot be relied on as reliable biomarkers to predict tissue ischaemia and hence who to target for anti-TNFα therapy in DADA2, since these remained steadfastly normal before, during, and after testicular infarction in this case.
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http://dx.doi.org/10.1186/s12969-019-0334-5 | DOI Listing |
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.
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 PDFChest
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 PDFAnn 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.
View Article and Find Full Text PDFAm 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.
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