- A microvascular myocardial infarction in a 16-year-old girl with antiphospholipid syndrome: a case report. [Journal Article]
- ACActa Clin Belg 2018 Aug 30; :1-4
- CONCLUSIONS: The antiphospholipid syndrome can manifest itself early by a microvascular myocardial infarction. The clinician has to be alerted by a livedo reticularis in these patients, which will be frequently associated with manifestations of antiphospholipid syndrome such as arterial thrombosis and valvulopathies.
- Livedoid vasculopathy: a compelling diagnosis. [Journal Article]
- ACAutops Case Rep 2018 Jul-Sep; 8(3):e2018034
- A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy. [Journal Article]
- FIFront Immunol 2018; 9:1535
- CONCLUSIONS: This case provides molecular evidence to support the p.Arg284Ser variant in STING exerting pathogenicity through a gain-of-function mechanism. The lack of cutaneous vasculitis or elevated systemic inflammatory markers, and the occurrence of an opportunistic infection are notable, and raise the possibility that variants outside the STING DD may potentially manifest with an atypical SAVI phenotype. Nevertheless, there was an objective clinical improvement in response to JAK inhibition.
- Cognitive and psychiatric changes as first clinical presentation in Sneddon syndrome. [Journal Article]
- DNDement Neuropsychol 2018 Apr-Jun; 12(2):216-219
- Sneddon syndrome (SS) is a rare progressive non-inflammatory thrombotic vasculopathy affecting small/medium-sized blood vessels of unknown origin. It is strongly associated with the presence of antip...
Sneddon syndrome (SS) is a rare progressive non-inflammatory thrombotic vasculopathy affecting small/medium-sized blood vessels of unknown origin. It is strongly associated with the presence of antiphospholipid antibodies (AA). The presence of livedo reticularis and cerebrovascular disease are hallmark features. The condition is far more common in young women. We report a case of SS in a 43 year-old male with a two-year history of progressive cognitive impairment consistent with dementia syndrome, and major personality changes, besides livedo reticularis and cerebral angiographic pattern of vasculitis. AA were borderline. The recognition of skin blemishes that precede strokes should raise the hypothesis of SS. AA are elevated in more than half of cases, but their role in the pathogenesis or association of positive antibodies and SS remains unclear. Dementia syndrome in young patients should be extensively investigated to rule out reversible situations. Typical skin findings, MRI and angiography may aid diagnosis.
- Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. [Review]
- JCJ Clin Immunol 2018; 38(5):569-578
- Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that encodes the adenosine deaminase 2...
Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that encodes the adenosine deaminase 2 (ADA2) protein. Over 60 disease-associated mutations have been identified in all domains of ADA2 affecting the catalytic activity, protein dimerization, and secretion. Vasculopathy ranging from livedo reticularis to polyarteritis nodosa (PAN) and life-threatening ischemic and/or hemorrhagic stroke dominate the clinical features of DADA2. Vasculitis and inflammation can affect many organs, explaining the intestinal, hepatological, and renal manifestations. DADA2 should be primarily considered in patients with early-onset fevers, rashes, and strokes even in the absence of positive family history. Hematological manifestations include most commonly hypogammaglobulinemia, although pure red cell aplasia (PRCA), immune thrombocytopenia, and neutropenia have been increasingly reported. Thus, DADA2 may unify a variety of syndromes previously not thought to be related. The first-line treatment consists of TNF-inhibitors and is effective in controlling inflammation and in preserving vascular integrity. Hematopoietic stem cell transplantation (HSCT) has been successful in a group of patients presenting with hematological manifestations. ADA2 is highly expressed in myeloid cells and plays a role in the differentiation of macrophages; however, its function is still largely undetermined. Deficiency of ADA2 has been linked to an imbalance in differentiation of monocytes towards proinflammatory M1 macrophages. Future research on the function of ADA2 and on the pathophysiology of DADA2 will improve our understanding of the condition and promote early diagnosis and targeted treatment.
- Autoantibody profile and clinical patterns in 619 Italian patients with cutaneous lupus erythematosus. [Journal Article]
- JEJ Eur Acad Dermatol Venereol 2018 Jun 20
- CONCLUSIONS: According to our findings, some well-known associations between CLE subtypes and autoantibody profile were confirmed; moreover, specific association between autoantibodies and LE-non-specific skin lesions was highlighted. A strict association between anti-ENA and anti-Ro/SSA antibodies and livedo reticularis, ANA and palpable purpura, and ANA and periungual telangiectasia was evidenced.
- Erythema nodosum leprosum presenting as sweet's syndrome-like reaction in a borderline lepromatous leprosy patient. [Case Reports]
- IJInt J Mycobacteriol 2018 Apr-Jun; 7(2):191-194
- Erythema nodosum leprosum (ENL) is characterized by tender erythematous nodules, accompanied by fever, malaise, arthralgia, and systemic complications. Atypical clinical manifestations have been repo...
Erythema nodosum leprosum (ENL) is characterized by tender erythematous nodules, accompanied by fever, malaise, arthralgia, and systemic complications. Atypical clinical manifestations have been reported such as pustular, bullous, ulceration; livedo reticularis; erythema multiforme-like reaction; and Sweet's syndrome (SS)-like presentation. We reported a case of ENL reaction presenting as SS-like reaction in a borderline lepromatous leprosy patient.
- [Atypical and revelatory livedo reticularis!?] [Case Reports]
- PAPan Afr Med J 2018; 29:91
- Atherosclerosis is a frequent and life-threatening complication in elderly patients with multimorbidity as well as with one or multiple cardiovascular risk factors. It can affect all the arterial tru...
Atherosclerosis is a frequent and life-threatening complication in elderly patients with multimorbidity as well as with one or multiple cardiovascular risk factors. It can affect all the arterial trunks of the lower limbs and can cause obliterative arterial disease of the lower limbs. We here report the case of an elderly patient with ecchymotic livedo reticularis of the right thigh revealing ipsilateral obliterative arterial disease of the lower limb with septic loosening of total hip prosthesis. The study involved a 70-year old man with favorable atheromatous condition complicated 6 months before by ischemic heart disease revascularized with double prostheses (stent) and with right total hip prosthesis implanted 10 years before. He presented with large mesh and incomplete livedo reticularis associated with ecchymoses on the right thigh (A). Clinical examination showed reduced distal pulses in the right lower limb. Laboratory tests showed discrete inflammatory syndrome and normal haemostatic and immunological tests . Standard radiographic evaluation of the right hip showed a loosening of the distal end of the prosthesis (C). Echo-doppler of the lower limbs and angio-scanner showed occlusion of the right external iliac axis, right double primitive iliac stenosis and a lesion due to septic dislocation of the right femoral prosthesis with abscess collection measuring 48 mm/30 mm ( B). The patient was referred to the Division of Vascular Surgery for revascularization. Vascular imaging by echo-doppler and/or angio-scanner should be performed, in particular in elderly patients with livedo reticularis or venous collateral circulation and with cardiovascular risk factors.
- Pyoderma gangrenosum-like ulcerations in granulomatosis with polyangiitis: two cases and literature review. [Review]
- RIRheumatol Int 2018; 38(6):1139-1151
- Granulomatosis with polyangiitis (GPA) is a systemic necrotizing small vessel vasculitis associated with circulating anti-neutrophil cytoplasmic antibodies (ANCAs). Skin manifestations, mostly repres...
Granulomatosis with polyangiitis (GPA) is a systemic necrotizing small vessel vasculitis associated with circulating anti-neutrophil cytoplasmic antibodies (ANCAs). Skin manifestations, mostly represented by palpable purpura, papulonodular lesions and livedo reticularis, are present in up to 50% of the cases. Ulcerations with undermined, raised erythematous-violaceous border resembling pyoderma gangrenosum (PG) have rarely been reported as skin involvement in GPA. The presence of circulating ANCAs with a cytoplasmic labelling pattern, the involvement of internal organs, particularly of the lung, and the absence on histology of a mainly neutrophilic infiltrate in early phases of the cutaneous lesions may be regarded as clues to rule out true PG and confirm the diagnosis of GPA skin ulcerations simulating PG. Herein, we describe two paradigmatic cases of such a unique presentation of GPA and a literature review focusing on clinicopathological features of GPA presenting with PG-like ulcerations in the skin has been provided. Moreover, referring to the scenario observed in these two cases, an easy-to-use working approach for the differential diagnosis between the two conditions has also been proposed.
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- Livedo reticularis: a cutaneous clue to an underlying endocrine crisis. [Journal Article]
- EDEndocrinol Diabetes Metab Case Rep 2018; 2018
- A 54-year-old woman was admitted to hospital with a presumed allergic reaction to a single dose of amoxicillin given for a suspected upper respiratory tract infection. She complained of chest tightne...
A 54-year-old woman was admitted to hospital with a presumed allergic reaction to a single dose of amoxicillin given for a suspected upper respiratory tract infection. She complained of chest tightness although there was no wheeze or stridor. On examination, she was pyrexial, tachycardic, hypertensive and had a diffuse mottled rash on her lower limbs. Her initial investigations showed raised inflammatory markers. She was treated in the intensive care for a presumed anaphylactic reaction with an underlying sepsis. Further investigations including CT head and CSF examination were unremarkable; however, a CT abdomen showed a 10 cm heterogeneous right adrenal mass. Based on review by the endocrine team, a diagnosis of pheochromocytoma crisis was made, which was subsequently confirmed on 24-h urinary metanephrine measurement. An emergency adrenalectomy was considered although she was deemed unfit for surgery. Despite intensive medical management, her conditioned deteriorated and she died secondary to multi-organ failure induced by pheochromocytoma crisis.