- The cutaneous manifestations are significantly related to cerebrovascular in a Serbian cohort of patients with Hughes syndrome. [Journal Article]
- LLupus 2018 Jan 01; :961203317751065
- Objectives To investigate a possible relationship between cerebrovascular, such as stroke and transient ischaemic attack, and various cutaneous manifestations (livedo reticularis, skin ulcerations, p...
Objectives To investigate a possible relationship between cerebrovascular, such as stroke and transient ischaemic attack, and various cutaneous manifestations (livedo reticularis, skin ulcerations, pseudovasculitis lesions, superficial cutaneous necrosis and digital gangrene) in antiphospholipid syndrome (APS). This report is based on a Serbian cohort of APS patients. Methods A total of 508 antiphospholipid syndrome APS patients were assessed: 360 with primary (PAPS) and 148 with APS associated with SLE (SAPS). Antiphospholipid antibodies analysis included detection of anti-cardiolipin (IgG/IgM), anti-β2glycoprotein I (IgG/IgM) and positive lupus anticoagulant test. Results The prevalence of cutaneous manifestations in our cohort was significantly higher in the SAPS group (76.4% vs. 27.2%, p = 0.0001). In both groups, the most common manifestation was livedo reticularis. The majority of cutaneous manifestations were significantly associated with cerebrovascular events in SAPS and PAPS. Cutaneous manifestations were independent predictors of transient ischaemic attack and stroke in PAPS patients (odds ratio 2.850, 95% confidence interval 1.562-5.202, p = 0.001, odds ratio 1.832, 95% confidence interval 1.024-3.277, p = 0.041, respectively). Conclusion In this cross-section analysis of a large cohort of Serbian APS patients, there was a strong relationship between cutaneous and cerebrovascular manifestations, suggesting a more cautious approach regarding neurological symptoms, especially in PAPS patients with cutaneous manifestations present.
- Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. [Journal Article]
- PBPediatr Blood Cancer 2018; 65(4)
- Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo reticularis, vasculitis, and stroke. However...
Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo reticularis, vasculitis, and stroke. However, the phenotype and disease severity are variable. We present a 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2. Exome sequencing identified a novel homozygous splicing variant in ADA2 c.882-2A > G. Patient responded to anti- tumor necrosis factor medication and is in complete remission. Hematologists should be aware of various hematological presentations of DADA2, including ALPS-like disorder, that might lack vasculitis and livedo reticularis to prevent delay in initiating optimal therapy.
- Cutaneous polyarteritis nodosa causing refractory skin deformation and pigmentation as sequel. [Case Reports]
- ABAn Bras Dermatol 2017; 92(5 Suppl 1):53-55
- A 39-year-old woman presented with prominent and painful livedo reticularis lesions spreading on her upper and lower extremities. Histopathologically, the small-to medium-sized arteries in the deep d...
A 39-year-old woman presented with prominent and painful livedo reticularis lesions spreading on her upper and lower extremities. Histopathologically, the small-to medium-sized arteries in the deep dermis and subcutis showed necrotizing vasculitis with cellular infiltration, suggesting cutaneous polyarteritis nodosa. The serum levels of inflammatory markers normalized with aspirin 100mg/day and prednisolone 10mg/day within 2 months, and there was no other skin or organ involvement over 18 months of follow up. However, serious refractory skin depressions and pigmentation remained after two years of treatment. This suggests the importance of early and aggressive therapy for cutaneous polyarteritis nodosa to prevent unsightly skin sequel, as well as control of disease activity.
- A Case of Polyarteritis Nodosa Presenting as Rapidly Progressing Intermittent Claudication of Right Leg. [Journal Article]
- CRCase Rep Med 2017; 2017:4219718
- CONCLUSIONS: Rapidly progressive unilateral intermittent claudication could be a very rare, but noteworthy presentation of PAN. With suggestive histology and exclusion of other comorbidities aggressive immunosuppressants should be instituted. Vascular bypass surgery for critical ischaemia of the limbs is an option that could be considered for limb-threatening disease.
- [Antiphospholipid syndrome in Pediatrics: a case report]. [Journal Article]
- AAArch Argent Pediatr 2017 Dec 01; 115(6):e412-e415
- The antiphospholipid syndrome is a multisystem autoimmune disease in which autoantibodies against a variety of phospholipids and phospholipid binding proteins are produced. It occurs in 1.8% of the p...
The antiphospholipid syndrome is a multisystem autoimmune disease in which autoantibodies against a variety of phospholipids and phospholipid binding proteins are produced. It occurs in 1.8% of the population and only 2% of the cases are pediatric. The spectrum of clinical manifestations is wide from asymptomatic patients to a life-threatening disease like the catastrophic antiphospholipid syndrome. Any organ can be affected. The most frequent manifestations in pediatrics correspond to venous thrombosis in 60% of patients, arterial thrombosis in 32%, hematological disease in 38% (thrombocytopenia, leucopenia), skin alterations in 18% (livedo reticularis, Raynaud's phenomenon) and neurological signs in 16%. We describe the case of a previously healthy 14-year-old female patient diagnosed with antiphospholipid syndrome.
- Antiphospholipid antibodies and non-thrombotic manifestations of systemic lupus erythematosus. [Journal Article]
- LLupus 2017 Jan 01; :961203317734924
- Objectives The aim of this study was to investigate the association between antiphospholipid antibodies and non-thrombotic and non-gestational manifestations of systemic lupus erythematosus. Methods ...
Objectives The aim of this study was to investigate the association between antiphospholipid antibodies and non-thrombotic and non-gestational manifestations of systemic lupus erythematosus. Methods Systemic lupus erythematosus patients with persistently positive antiphospholipid antibodies or lupus anticoagulant were identified and grouped as systemic lupus erythematosus with antiphospholipid syndrome (SLE-APS), systemic lupus erythematosus with positive antiphospholipid antibodies/lupus anticoagulant without antiphospholipid syndrome (SLE-aPL), and systemic lupus erythematosus with negative aPLs (SLE-No aPL). Groups were compared in terms of non-thrombotic systemic lupus erythematosus manifestations and laboratory features retrospectively. Results A total of 150 systemic lupus erythematosus patients, 26 with SLE-APS, 25 with SLE-aPL, and 99 with SLE-No aPL, were identified. Livedo reticularis, neurologic involvement, and thrombocytopenia were more common in antiphospholipid antibody positive systemic lupus erythematosus cases. Malar rash, arthritis, and pleuritis were more common in the SLE-No aPL, SLE-APS, and SLE-aPL groups, respectively. Positivity rates and titers of specific antiphospholipid antibodies did not differ between the SLE-APS and SLE-aPL groups. Conclusions Presence of antiphospholipid syndrome or persistent antiphospholipid antibodies may be related to non-thrombotic and non-gestational systemic lupus erythematosus manifestations. Patients with systemic lupus erythematosus plus antiphospholipid syndrome and persistent antiphospholipid antibodies without antiphospholipid syndrome also differ in terms of systemic lupus erythematosus manifestations.
- Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. [Multicenter Study]
- BloodBlood 2017 Dec 14; 130(24):2682-2688
- Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1 DADA2 results in variable autoinflammation and vasculopathy (recurrent fevers, livedo reticularis, po...
Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1 DADA2 results in variable autoinflammation and vasculopathy (recurrent fevers, livedo reticularis, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency and bone marrow failure. Tumor necrosis factor-α blockade is the treatment of choice for the autoinflammation and vascular manifestations. Hematopoietic stem cell transplantation (HSCT) represents a potential definitive treatment. We present a cohort of 14 patients from 6 countries who received HSCT for DADA2. Indication for HSCT was bone marrow dysfunction or immunodeficiency. Six of 14 patients had vasculitis pre-HSCT. The median age at HSCT was 7.5 years. Conditioning regimens were myeloablative (9) and reduced intensity (5). Donors were HLA-matched sibling (n = 1), HLA-matched unrelated (n = 9), HLA-mismatched unrelated (n = 3), and HLA haploidentical sibling (n = 1). All patients are alive and well with no new vascular events and resolution of hematological and immunological phenotype at a median follow-up of 18 months (range, 5 months to 13 years). Plasma ADA2 enzyme activity normalized in those tested post-HSCT (7/7), as early as day +14 (myeloid engraftment). Post-HSCT hematological autoimmunity (cytopenias) was reported in 4 patients, acute graft-versus-host disease grade 1 in 2, grade 2 in 3, and grade 3-4 in 1, and moderate chronic graft-versus-host disease in 1 patient. In conclusion, in 14 patients, HSCT was an effective and definitive treatment of DADA2.
- Asymptomatic cutaneous polyarteritis nodosa: treatment options and therapeutic guidelines. [Journal Article]
- CCutis 2017; 100(2):125-128
- Cutaneous polyarteritis nodosa (CPAN) is a rare cutaneous small- to medium-vessel vasculitis of unknown etiology. Clinically it ranges in manifestation from livedo reticularis to large cutaneous ulce...
Cutaneous polyarteritis nodosa (CPAN) is a rare cutaneous small- to medium-vessel vasculitis of unknown etiology. Clinically it ranges in manifestation from livedo reticularis to large cutaneous ulcers and necrosis. Prognosis is favorable and progression to systemic polyarteritis nodosa is rare. There are multiple treatment options, none of which have proven to be definitively effective. Cutaneous polyarteritis nodosa has been associated with abnormal antibody testing with elevations of antiphospholipid cofactor antibody, lupus anticoagulant, anticardiolipin antibody, and anti-β2-glycoprotein I-dependent cardiolipin antibodies, as well as elevated anti-phosphatidylserine-prothrombin complex antibody. These antibodies suggest increased risk for thrombosis and systemic diseases such as lupus or other autoimmune connective tissue disease. We present a case of asymptomatic CPAN and evaluate if treatment should be instituted for asymptomatic disease that presents with abnormal antibody findings.
- Analysis of serum levels and cutaneous expression of lipoprotein (a) in 38 patients with livedoid vasculopathy. [Journal Article]
- JCJ Cutan Pathol 2017; 44(12):1033-1037
- CONCLUSIONS: Increased Lp(a) expression in lesional skin of LV patients suggests the role of Lp(a) in the thrombo-occlusive vasculopathy observed in this disease.
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- Livedoid eruption in a patient affected by T-γδ large granular lymphocyte leukaemia. [Journal Article]
- BCBMJ Case Rep 2017 Sep 07; 2017
- Livedo is an ischaemic dermopathy characterised by a reddish-blue to violaceous mottling of the skin with a net-like reticular appearance. Livedo has been described in association with several medica...
Livedo is an ischaemic dermopathy characterised by a reddish-blue to violaceous mottling of the skin with a net-like reticular appearance. Livedo has been described in association with several medical conditions including lymphoproliferative disorders. Here, we describe the case of a 60-year-old woman who was presented with asymptomatic and persistent livedoid eruption on her trunk, lower and upper extremities as manifestation of an indolent form of T-γδ large granular lymphocyte leukaemia. To the best of our knowledge, this is the first report describing the association between livedo reticularis and T-γδ large granular lymphocyte leukaemia. It is plausible that a pathogenetic role of the neoplastic process is based on a cytotoxic antiendothelial activity.