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Abstract：
BACKGROUND: Dermatomyositis is an inflammatory muscle disease caused by immune-mediated muscle injury, and central core disease (CCD) is a congenital myopathy associated with disturbed intracellular calcium homeostasis and excitation-contraction coupling. To date, CCD has not been reported to have autoantibodies or coexist with inflammatory myopathy.
METHODS: Here, we described the case of a 25-year-old woman who had progressive proximal muscle weakness, myalgia, pruritic macular rash, skin ulcers, and calcinosis. Dermatomyositis was initially suspected based on the clinical symptoms accompanied by elevated muscle enzyme levels, electromyography abnormalities, and a positive antinuclear antibody test. However, the patient\'s muscle biopsy revealed the characteristic findings of both dermatomyositis and CCD, suggesting that dermatomyositis occurred in this patient with previously asymptomatic CCD. The patient did not have any pathogenic gene mutations associated with congenital myopathy, including RYR1 and SEPN1 in targeted next-generation sequencing. She received high-dose glucocorticoid therapy and azathioprine with a significant improvement in muscle strength.
CONCLUSIONS: We present a case of rare coexistence of dermatomyositis and CCD. Clinicians should be aware that patients with CCD may have inflammatory myopathy that responds well to immunosuppressive therapy.
METHODS: Here, we described the case of a 25-year-old woman who had progressive proximal muscle weakness, myalgia, pruritic macular rash, skin ulcers, and calcinosis. Dermatomyositis was initially suspected based on the clinical symptoms accompanied by elevated muscle enzyme levels, electromyography abnormalities, and a positive antinuclear antibody test. However, the patient\'s muscle biopsy revealed the characteristic findings of both dermatomyositis and CCD, suggesting that dermatomyositis occurred in this patient with previously asymptomatic CCD. The patient did not have any pathogenic gene mutations associated with congenital myopathy, including RYR1 and SEPN1 in targeted next-generation sequencing. She received high-dose glucocorticoid therapy and azathioprine with a significant improvement in muscle strength.
CONCLUSIONS: We present a case of rare coexistence of dermatomyositis and CCD. Clinicians should be aware that patients with CCD may have inflammatory myopathy that responds well to immunosuppressive therapy.
摘要：
背景：皮肌炎是一种由免疫介导的肌肉损伤引起的炎症性肌肉疾病，和中枢核心疾病（CCD）是一种先天性肌病，与细胞内钙稳态和兴奋-收缩耦合有关。迄今为止,尚未报道CCD具有自身抗体或与炎性肌病共存。
方法：这里，我们描述了一个25岁的女性，她患有进行性近端肌无力，肌痛，瘙痒性黄斑皮疹，皮肤溃疡,和钙质沉着。皮肌炎最初被怀疑基于临床症状伴有肌肉酶水平升高，肌电图异常,抗核抗体检测呈阳性.然而,患者的肌肉活检显示皮肌炎和CCD的特征性发现，提示皮肌炎发生在先前无症状的CCD患者中。患者没有任何与先天性肌病相关的致病基因突变，在靶向下一代测序中包括RYR1和SEPN1。她接受了大剂量糖皮质激素治疗和硫唑嘌呤，肌肉力量显着改善。
结论：我们介绍了一例罕见的皮肌炎和CCD共存的病例。临床医生应注意，CCD患者可能患有炎症性肌病，对免疫抑制治疗反应良好。
方法：这里，我们描述了一个25岁的女性，她患有进行性近端肌无力，肌痛，瘙痒性黄斑皮疹，皮肤溃疡,和钙质沉着。皮肌炎最初被怀疑基于临床症状伴有肌肉酶水平升高，肌电图异常,抗核抗体检测呈阳性.然而,患者的肌肉活检显示皮肌炎和CCD的特征性发现，提示皮肌炎发生在先前无症状的CCD患者中。患者没有任何与先天性肌病相关的致病基因突变，在靶向下一代测序中包括RYR1和SEPN1。她接受了大剂量糖皮质激素治疗和硫唑嘌呤，肌肉力量显着改善。
结论：我们介绍了一例罕见的皮肌炎和CCD共存的病例。临床医生应注意，CCD患者可能患有炎症性肌病，对免疫抑制治疗反应良好。
