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


CONCLUSIONS
A 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.
['Gertner|Elie|E|', 'Rosenbloom|Michael H|MH|']
D001921:Brain D005654:Fundus Oculi D005938:Glucocorticoids D006801:Humans D016756:Immunoglobulins, Intravenous D007155:Immunologic Factors D054068:Livedo Reticularis D008279:Magnetic Resonance Imaging D008297:Male D008775:Methylprednisolone D000069283:Rituximab D055955:Susac Syndrome D055815:Young Adult
Susac syndrome Autoimmune endotheliopathy Livedo reticularis