Srichawla Bahadar S
Department of Neurology, University of Massachusetts Chan Medical School, Worcester, USA.
Cureus. 2022 Jul 27;14(7):e27352. doi: 10.7759/cureus.27352. eCollection 2022 Jul.
Susac syndrome (SuS) is a rare autoimmune endotheliopathy that affects the retina, cochlea, and central nervous system (CNS). Even fewer cases of SuS have been reported with dermatological findings, including livedo reticularis and racemosa. The case of SuS reported here presents with encephalopathy, visual disturbances, hearing loss, and a diffuse rash on the abdomen and flank. Magnetic resonance imaging (MRI) of the brain confirmed lesions within the corpus callosum, and an audiogram revealed a unilateral biphasic sensorineural hearing loss in the right ear. A skin biopsy was completed that revealed congested dermal vessels with lymphocytic perivascular infiltrates consistent with livedo reticularis and vasculopathy. Management included intravenous methylprednisolone (IVMP) and a tapering oral dose of prednisone. The patient was also administered 1000 mg of cyclophosphamide with a two-week follow-up for a repeat infusion. Cytotoxic T-lymphocytes (CTLs) and auto-endothelial cell antibodies (AECAs) are hypothesized to play a key role in the pathogenesis of SuS. Livedo reticularis occurs due to congestion of dermal vessels and can be both physiological and pathological in etiology. Pathological etiologies include autoimmune vasculopathies, connective tissue disorders, and drugs (catecholaminergic agents, amantadine, quinidine, etc.). A literature review of SuS cases with associated dermatologic findings is included. Five cases were identified, and neurologic manifestations, dermatologic manifestations, and interventions are described.
Susac综合征（SuS）是一种罕见的自身免疫性内皮病，可累及视网膜、耳蜗和中枢神经系统（CNS）。报告有皮肤表现（包括网状青斑和匐行性血管瘤）的SuS病例更少。本文报告的这例SuS患者表现为脑病、视觉障碍、听力丧失以及腹部和侧腹弥漫性皮疹。脑部磁共振成像（MRI）证实胼胝体内有病变，听力图显示右耳单侧双相感音神经性听力丧失。完成了皮肤活检，结果显示真皮血管充血，血管周围有淋巴细胞浸润，符合网状青斑和血管病表现。治疗包括静脉注射甲基强的松龙（IVMP）和逐渐减量的口服强的松。患者还接受了1000mg环磷酰胺治疗，并在两周后进行随访以便重复输注。细胞毒性T淋巴细胞（CTLs）和自身内皮细胞抗体（AECAs）被认为在SuS的发病机制中起关键作用。网状青斑是由于真皮血管充血所致，其病因可能是生理性的，也可能是病理性的。病理性病因包括自身免疫性血管病、结缔组织病和药物（儿茶酚胺能药物、金刚烷胺、奎尼丁等）。本文纳入了对伴有相关皮肤表现的SuS病例的文献综述。共确定了5例病例，并描述了其神经学表现、皮肤表现及干预措施。
