Harazeen Ahmed, Walter Brian, Li Xiangping, Patel Chilvana
Neurology, University of Texas Medical Branch, Galveston, USA.
Neurology, Houston Methodist Hospital, Houston, USA.
Cureus. 2023 Jul 31;15(7):e42727. doi: 10.7759/cureus.42727. eCollection 2023 Jul.
We present a case of seronegative amyopathic dermatomyositis (SADM). This clinical entity should be considered in the differential diagnosis of patients with recurring, painful erythematous skin manifestations, and requires close monitoring for the development of neurological manifestations and malignancy. SADM is a rare autoimmune disease that affects the skin and muscles. It is considered a subtype of dermatomyositis (DM), which is a systemic autoimmune disease. The exact cause of SADM is not fully understood but is believed to involve a complex interplay between genetic, environmental, and immunological factors. The diagnosis of SADM is typically made based on clinical evaluation, blood tests, muscle biopsy, and skin biopsy. Treatment options for SADM may include corticosteroids, immunosuppressive drugs, and other supportive measures to manage symptoms and prevent disease progression. A 30-year-old female presented with symptoms of intermittent burning, painful rash primarily on the hands and face. Her medical history was remarkable for a six-year history of multifocal joint pain, chronic low back pain, and intermittent, painful recurring rash in the upper body (face, neck, and chest). Neurological examination revealed scalp tenderness and arthralgia in the upper extremities, with normal motor strength examination. Skin findings included described an erythematous rash on the arms and hands bilaterally. Skin punch biopsy showed compact orthokeratosis, atrophy of the epidermis, interface changes, and increased dermal mucin on the colloidal iron stain, which are suggestive of DM. Electromyography and nerve conduction study were normal. The MRI of the left thigh was normal. C3 and C4 levels were reduced. The extended muscle-specific myositis panel including MDA5 was negative. The patient was placed on a multidrug regimen, including methotrexate, hydroxychloroquine, and prednisone. Within one year of follow-up, she was found to have reductions in skin manifestation and flare-ups. Clinicians should consider amyopathic DM (ADM) in the differential diagnosis of patients with recurring, painful skin manifestations. This condition can be easily overlooked as the development of neurological sequelae may be present much later in the course. We highlight the need for a multi-disciplinary management approach for patients with this unique diagnosis. Close monitoring for the development of neurological manifestations and associated sequelae including malignancy is recommended.
我们报告一例血清阴性无肌病性皮肌炎(SADM)病例。对于反复出现疼痛性红斑皮肤表现的患者,鉴别诊断时应考虑这一临床实体,并且需要密切监测神经表现和恶性肿瘤的发生。SADM是一种罕见的自身免疫性疾病,会影响皮肤和肌肉。它被认为是皮肌炎(DM)的一种亚型,而DM是一种全身性自身免疫性疾病。SADM的确切病因尚未完全明确,但据信涉及遗传、环境和免疫因素之间的复杂相互作用。SADM的诊断通常基于临床评估、血液检查、肌肉活检和皮肤活检。SADM的治疗选择可能包括皮质类固醇、免疫抑制药物以及其他缓解症状和预防疾病进展的支持性措施。一名30岁女性出现主要累及手部和面部的间歇性灼痛性皮疹症状。她有6年多灶性关节疼痛、慢性下背痛以及上身(面部、颈部和胸部)间歇性疼痛性皮疹复发史,病史较为显著。神经检查显示头皮压痛和上肢关节痛,运动强度检查正常。皮肤检查发现双侧手臂和手部有红斑皮疹。皮肤打孔活检显示致密正角化、表皮萎缩、界面改变以及胶体铁染色显示真皮粘蛋白增加,提示为皮肌炎。肌电图和神经传导研究正常。左大腿MRI正常。C3和C4水平降低。包括MDA5在内的扩展型肌肉特异性肌炎检测指标为阴性。该患者接受了包括甲氨蝶呤、羟氯喹和泼尼松在内的多药联合治疗方案。在随访的一年内,发现她的皮肤表现和病情发作有所减轻。临床医生在对反复出现疼痛性皮肤表现的患者进行鉴别诊断时应考虑无肌病性皮肌炎(ADM)。这种情况很容易被忽视,因为神经后遗症可能在病程后期才出现。我们强调对于这一独特诊断的患者需要采取多学科管理方法。建议密切监测神经表现及包括恶性肿瘤在内的相关后遗症的发生。