Karaca Ömer, Güngör Mesut, Sakarya Güneş Ayfer, Eser Şimşek Işıl, Anık Yonca, Kara Bülent
Kocaeli University Medical Faculty, Division of Child Neurology, Department of Pediatrics, Izmit, Turkey.
Division of Child Neurology, Department of Pediatrics, Sakarya Education and Research Hospital, Sakarya, Turkey.
Int J Rheum Dis. 2022 May;25(5):617-625. doi: 10.1111/1756-185X.14311. Epub 2022 Mar 3.
Juvenile dermatomyositis (JDM) is the most common subtype of idiopathic inflammatory myopathies in childhood. Gottron's papules, shawl sign, periorbital heliotrope rash, and periungual telengiectasis are characteristic skin findings of the disease. Besides characteristic skin involvement, some other skin findings, such as angioedema, may be seen prior or in the course of the disease. The presence of angioedema in JDM is emphasized in this report.
We present 2 unrelated girls, aged 2 (case 1) and 12 years (case 2), who had developed symmetrical weakness in the proximal muscles, muscle pain, elevated muscle enzymes and angioedema. Both cases had abnormal muscle magnetic resonance imaging findings, suggestive of inflammatory myositis. Muscle biopsy was performed only in case 1, and major histocompatibility complex-1 expression on myofibers was shown consistent with JDM. Cases were diagnosed as probable and definite JDM, respectively. Angioedema was prominent, particularly in the lips and extremities of both cases, without laboratory evidence of C1 inhibitor deficiency or capillary leak syndrome, and absence of family history. Mast cell-mediated, acquired angioedema was the most likely diagnosis. In both cases, skin and muscle findings improved significantly with steroid treatment.
We suggest that angioedema may be among the characteristic skin findings in JDM, and may be included in subsequent definitions.
幼年皮肌炎（JDM）是儿童特发性炎性肌病最常见的亚型。Gottron丘疹、披肩征、眶周向阳疹和甲周毛细血管扩张是该疾病的特征性皮肤表现。除了特征性的皮肤受累外，在疾病之前或病程中还可能出现一些其他皮肤表现，如血管性水肿。本报告强调了JDM中血管性水肿的存在。
我们介绍了2名无血缘关系的女孩，分别为2岁（病例1）和12岁（病例2），她们出现近端肌肉对称性无力、肌肉疼痛、肌酶升高和血管性水肿。两例患者的肌肉磁共振成像检查结果均异常，提示炎性肌炎。仅对病例1进行了肌肉活检，结果显示肌纤维上主要组织相容性复合体-1的表达与JDM一致。两例病例分别被诊断为可能的和确诊的JDM。血管性水肿很突出，特别是在两例患者的嘴唇和四肢，没有C1抑制剂缺乏或毛细血管渗漏综合征的实验室证据，也没有家族史。肥大细胞介导的获得性血管性水肿是最可能的诊断。在两例病例中，皮肤和肌肉表现经类固醇治疗后均有显著改善。
我们认为血管性水肿可能是JDM的特征性皮肤表现之一，可能会被纳入后续的定义中。
