【摘要】 报告1例儿童皮肌炎并发视网膜母细胞瘤。患儿女,10岁。因全身皮疹10个月,肌无力逐渐加重10个月,伴左肘肿胀、活动受限20个月就诊。实验室检查:抗核抗体(ANA)1:320均质型、1:100颗粒型,血清肌酸激酶、肌酸激酶同工酶、乳酸脱氢酶、α-羟丁酸脱氢酶持续升高;皮损组织病理检查示真皮浅中层炎性细胞浸润,以淋巴细胞为主。肱骨远端肿物穿刺活检示小细胞视网膜母细胞瘤伴片状坏死,穿刺组织内未见肿瘤性成骨及软骨;免疫组化染色示神经元特异性烯醇化酶(NSE)弥漫阳性,S-100蛋白局灶阳性,胶质纤维酸性蛋白(GFAP)阴性,神经元来源肿瘤可能性大。患儿8年前曾因单侧视网膜母细胞瘤行左眼球摘除术,肿瘤组织视神经断端浸润但患儿未接受术后化疗;结合皮疹、肌无力、肌酶升高、ANA抗体阳性及皮肤组织病理,诊断:儿童皮肌炎并发视网膜母细胞瘤术后转移。更多还原

【Abstract】 A 10-year-old girl with juvenile dermatomyositis complicated with malignancy is reported.The patient presented with skin lesions on the face,back and limbs,gradually with muscle weakness.The patient also had left elbow swelling,and limited mobility for 20 months.ANA titer was 1:320 homogeneous pattern and 1:100 particulate pattern,and persistent increase of serum creatine kinase,creatine kinase isoenzyme,lactate dehydrogenase,alpha-hydroxybutyrate dehydrogenase.Histopathological examination of the skin lesion revealed inflammatory cells,mainly lymphocytes,infiltrated in the middle and superficial dermis.Puncture biopsy of tumor on the distal end of humerus showed small cell malignant tumor with patchy necrosis,and no neoplastic bone and cartilage formation.Immunohistochemical staining showed NSE diffusely positive,S-100 focal positive and GFAP-negative.It is very likely that the tumor was derived from neuron source,because the patient had unilateral retinoblastoma with enucleation of left eye ball eight years ago.Although the optic nerve stump was infiltrated with tumor tissue,the patient did not receive postoperative chemotherapy.According to the features of skin lesion,muscle weakness,elevated muscle enzymes,positive ANA and histopathologic changes,the patient was diagnosed as juvenile dermatomyositis with postoperative metastasis of retinoblastoma.Juvenile dermatomyositis complicated with malignancy is rare.更多还原