Skin involvement in Susac's syndrome

Turc, Guillaume; Monnet, Dominique; Dupin, Nicolas; Beuvon, Frédéric; Guiraud, Vincent; Amor, Mejdi Ben; Touzé, Emmanuel

doi:10.1016/j.jns.2011.03.001

Cited by 26 publications

(13 citation statements)

References 22 publications

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“…In most cases, similar to the one presented here, the exanthema quickly resolved under immunosuppressive therapy. In one case [11], skin biopsy showed signs of complement-mediated damage to endothelial cells in upper dermis capillaries, analogous to the histopathological changes in brain biopsies of SS [9]. In combination with the case presented here, these observations strongly suggest that LR can be part of SS, and that SS is an important differential diagnosis in an encephalopathic patient with skin involvement compatible with LR.…”

Section: Discussionsupporting

confidence: 74%

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Encephalopathic Susac’s Syndrome associated with livedo racemosa in a young woman before the completion of family planning

Engeholm

Leo-Kottler

Rempp³

et al. 2013

BMC Neurol

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BackgroundSusac’s Syndrome (SS) consists of the triad of encephalopathy, branch retinal artery occlusions (BRAO) and hearing loss (HL). Histopathologically, SS is characterised by a microangiopathy, and some observations suggest that an immune-mediated damage of endothelial cells might play a role. These findings also implicate a similarity between SS and other autoimmune diseases, most notably juvenile dermatomyositis (JDM). However, SS and JDM are commonly thought to affect distinct and non-overlapping sets of organs, and it is currently not clear how these specificities arise. Moreover, in the absence of clinical trials, some authors suggest that therapeutic approaches in SS should rely on the model of other autoimmune diseases such as JDM.Case presentationHere, we report a case of SS in a 32-year-old pregnant woman. She initially was admitted to the hospital with subacute severe encephalopathy and multifocal neurologic signs. As cranial magnetic resonance imaging (MRI) revealed multifocal white matter lesions including the corpus callosum, erroneously a diagnosis of multiple sclerosis (MS) was made, and intravenous methylprednisolone (IVMP) therapy was initiated. A few days later, an exanthema appeared on the trunk and extremities, which was diagnosed as livedo racemosa (LR). Several weeks later, the patient was readmitted to the clinic with an obscuration of her left visual hemifield and a bilateral HL. Ophthalmologic examination revealed extensive ischemic damage to both retinae. Now the correct diagnosis of SS was established, based on the above triad of clinical symptoms in conjunction with typical MRI and fundoscopic findings. When SS was diagnosed, the standard therapy with intravenous cyclophosphamide (IVCTX) was not instituted because of a significant risk of permanent infertility. Instead, sustained control of disease activity could be achieved with a therapeutic regime combining prednisolone, intravenous immunoglobulins (IVIG), mycophenylate mofetil (MM), and methotrexate (MTX).ConclusionsAn association with LR has only been described in very few cases of SS before and further underlines the pathogenetic relationship between SS and other autoimmune diseases such as JDM. In young women with SS and the desire for a child the combination of MM and MTX may represent a reasonable alternative to IVCTX.

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Section: Discussionsupporting

confidence: 74%

“…To start with, skin involvement in terms of LR has only been described in very few out of more than 300 patients reported in the literature so far [1,11,12]. In most cases, similar to the one presented here, the exanthema quickly resolved under immunosuppressive therapy.…”

Section: Discussionsupporting

confidence: 53%

Encephalopathic Susac’s Syndrome associated with livedo racemosa in a young woman before the completion of family planning

Engeholm

Leo-Kottler

Rempp³

et al. 2013

BMC Neurol

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“…Other manifestations include myalgia and arthralgia. A few patients have been described to have skin lesions [ 2 , 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Turc et al . [ 3 ] reported a case of SuS preceded by a 2-week history of livedo racemosa. Skin biopsies revealed several occluded dermal arterioles, endothelial cell swelling, and a mild perivascular lymphocytic infiltrate.…”

Section: Discussionmentioning

confidence: 99%

“…The condition is often under recognized because clinical symptoms associated with the triad may present independently at different times and physicians may be unfamiliar with the syndrome. Of note, case reports have described associated dermatological manifestations that might help facilitate earlier diagnosis [ 3 ]. Different therapeutic regimens have been described with varying results.…”

Section: Introductionmentioning

confidence: 99%

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Susac syndrome with prominent dermatological findings and a prompt response to intravenous immunoglobulin, steroids, and rituximab: a case report

Gertner

Rosenbloom²

2016

J Med Case Reports

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BackgroundSusac syndrome (retinocochleocerebral vasculopathy) is an autoimmune endotheliopathy affecting the precapillary arterioles of the brain, retina, and inner ear. It presents with encephalopathy, branch retinal artery occlusions, and hearing loss. The condition is often under recognized because the clinical symptoms may present at different times and physicians may be unfamiliar with the syndrome. Peripheral findings would be helpful in early diagnosis. There are numerous treatment regimens proposed with varying effectiveness.Case presentationWe report the case of a 22-year-old Caucasian man in whom there were prominent skin findings, including livedo reticularis and a micropapular eruption which responded promptly to treatment suggesting that skin involvement may facilitate earlier diagnosis. Rituximab has occasionally been used in more refractory disease. We observed a prompt response to the combination of intravenous immunoglobulin, corticosteroids, and rituximab instituted immediately after diagnosis.ConclusionsA careful search for dermatological manifestations may help with earlier diagnosis. Skin findings may be another marker of endothelial cell involvement. Early use of rituximab as part of the therapeutic regimen may be warranted.

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