一文了解幼年型皮肌炎和多发性肌炎

2018-07-31 佚名 小神论经

幼年型皮肌炎(juvenile dermatomyositis, JDM)和幼年型多发性肌炎(juvenile polymyositis, JPM)是罕见的儿童期自身免疫性肌病。JDM主要为毛细血管病变;而JPM涉及T细胞直接侵犯肌纤维,这与在成人多发性肌炎中所见类似。

幼年型皮肌炎(juvenile dermatomyositis, JDM)和幼年型多发性肌炎(juvenile polymyositis, JPM)是罕见的儿童期自身免疫性肌病。JDM主要为毛细血管病变;而JPM涉及T细胞直接侵犯肌纤维,这与在成人多发性肌炎中所见类似。

流行病学

JDM是儿童期最常见的特发性炎性肌病,约占所有儿童期特发性炎性肌病的85%。JDM的年发病率为2-4例/100万儿童。发病峰年龄为5-10岁。女孩比男孩更易患此病,女孩的发病率为男孩的2-5倍。JPM较少见,仅占儿童期特发性炎性肌病的3%-6%。

发病机制

尽管病因仍不清楚,但已有人提出JDM和JPM由遗传易感个体的自身免疫反应导致,可能是对环境触发因素的应答。

遗传易感性。

免疫机制。


恶性肿瘤:与成人不同,JDM或JPM患儿的恶性肿瘤风险没有增加。没有证据表明这些疾病在JDM患儿中的发病率高于一般人群。基于这些数据,当儿童存在特发性炎性肌病时,除非起病特征非常特殊,不需要寻找是否有恶性肿瘤。

临床表现

肌无力是JDM和JPM的标志性表现。除此之外,JDM患者会表现出特征性皮疹。JDM和JPM患儿也可能有全身症状(发热、体重减轻、乏力和头痛),这些症状可能是发生肌无力之前的初始表现,JDM患者的初始表现还可能为皮疹。

JDM的临床表现多种多样,国外有统计在发病时记录了最常见的症状/发现及其发生率:

Gottron皮疹–91%

向阳性皮疹–83%

颊部/面部皮疹–42%

甲襞毛细血管改变–80%

肌痛/关节痛–25%

发音障碍或吞咽困难–24%

厌食–18%

发热–16%

也有研究提示初始症状为皮疹的患者占65%,仅为肌无力的患者占29%,初始症状既有皮疹也有肌无力的患者占6%。肌无力的严重程度随着诊断前症状持续时间的增加而增加。JDM患儿的身高和体重均更低。其他发现包括甲襞毛细血管扩张、关节炎、吞咽困难、腹痛和发热。

1.皮肤表现:在JDM儿童中,皮肤表现很常见,包括特征性向阳性皮疹、Gottron丘疹、甲襞毛细血管改变、钙质沉着和皮肤溃疡。 多种独特的皮疹(向阳性皮疹和Gottron丘疹)可与肌肉受累同时发生,但也可在明显肌无力前就显现。皮疹是鉴别JDM与JPM的重要特征,因为JPM中不存在皮疹。日光暴露可能加重皮肤病变。

(1)向阳性皮炎是一种发生在上眼睑的紫红色皮疹,常伴有眼睑肿胀。也可出现颊部和面部红斑。向阳性皮疹是JDM患者最常见的表现之一。眶周水肿、上眼睑水肿或眼睑毛细血管扩张可见于50%-90%的JDM患儿。

(2)Gottron丘疹是一种发生在指关节背侧面的鳞屑性红色丘疹。如果病变并非呈丘疹,则常用“Gottron征”这个术语。相似的病变可发生在肘、膝及内踝的伸肌面,有时类似于银屑病。Gottron丘疹是JDM患者的常见特征。

(3)甲襞毛细血管改变,这些改变包括毛细血管扩张、迂曲和毛细血管袢丧失。毛细血管表面积密度的测量可能是监测JDM临床活动性的有用工具。

(4)皮肤溃疡,溃疡性皮肤病变是一种严重且可能危及生命的JDM表现。据推测,溃疡反映了皮肤中的严重血管病变(伴有组织缺氧和坏死),而且可能是其他器官血管病变的信号(尤其是肺和胃肠道)。存在溃疡性病变的患者病情更严重,预后更差。

(5)钙质沉着,营养不良性钙化或钙质沉着(软组织钙化)一般发生在诊断后数年内。目前已报道了5种不同模式的钙质沉着:a小的散在性浅表斑块或结节,通常发生在四肢。这种病变常常不影响功能,但可能疼痛,而且可能会出现自发性蜂窝织炎样炎症(有时伴有牙膏样钙皂化物排出)。浅表钙质沉着常经过数年自行消退。b深部肿瘤样肌肉钙化常可见于近端肌群,并且可能影响关节活动。这些沉积物可能形成溃疡或通过皮肤而挤出钙化物。这些病变可能需要外科清创术以最大程度恢复关节功能。c沿肌筋膜面出现的弥漫性沉积物可能限制关节功并产生疼痛。d可能见到以上3种类型的混合形式.e会导致功能严重受限的广泛性外骨骼样钙沉积物。存在这种形式的钙质沉着的患者常有与溃疡性皮肤病有关的严重持续病程史。

钙质沉着与下列危险因素有关:诊断或治疗延迟,或者治疗不当。组织坏死因子(tissue necrosis factor, TNF)α-308A基因型(该等位基因与TNFα水平升高相关)。存在抗核基质蛋白2(nuclear matrix protein2, NXP2)自身抗体。发病时年龄较小。

2.无肌病性皮肌炎:在少数儿童中,可能会出现JDM的皮肤表现但无临床明显的肌肉病变。有这种表现的儿童被称为无肌病性JDM,可能永远不发生肌无力,但无肌病性JDM可能反映的是肌无力尚未发生前的病程早期阶段。皮肤表现可能需要治疗,但在部分未进行全身性治疗的患者中也可能出现缓解。有学者认为,肌酶升高或有亚临床肌肉炎症其他证据的儿童患者应该接受治疗,无论其是否存在临床明显的肌无力。

3.肌无力:炎性肌病以对称性近端肌无力为特征。这可能表现为功能受限,严重受累的患儿可能无法给自己喂食。对于年龄特别小的儿童,频繁跌倒可能是一种重要症状。常出现Gower征。 腭肌及环咽肌无力可能导致吞咽困难、鼻音、气管误吸和食物反流进鼻咽部。食管上段受累可导致固体和流质食物吞咽困难。

4.关节炎:在诊断时或病程中可出现非腐蚀性关节痛和关节炎。可能观察到挛缩,但这通常与肌肉炎症(而非关节炎)有关。

5.脂肪营养不良:已发现越来越多的JDM患者存在获得性脂肪营养不良和相关的代谢异常(如胰岛素抵抗、黑棘皮病和2型糖尿病)。

6.其他表现:其他临床表现包括肺部受累–间质性肺疾病。胃肠道血管病变–胃肠道受累相对罕见,但可能危及生命。胃肠道受累患者可表现为腹痛、肠壁积气、胃肠道出血或穿孔。导致肠道溃疡和穿孔的基础病理机制是复杂的。 全身性水肿–就诊时存在全身性水肿可能是一种不良的预后征象,表明可能存在对治疗反应非常缓慢以及单用皮质类固醇可能无效的重度疾病。全身性水肿可能是血管内皮损伤导致的弥散性毛细血管渗出的结果。

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    2018-08-04 易水河

    学习学习很好

    0

  4. 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  5. 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topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Tue Jul 31 13:03:22 CST 2018, time=2018-07-31, status=1, ipAttribution=)]
    2018-08-01 zxppyq

    认真学习了

    0

  6. 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attachment=null, authenticateStatus=null, createdAvatar=http://login.medsci.cn/upload/avatar/f3d88083d8829740786bed95c22464d1/e325f3af93bb747a620d16c209094d69.jpg, createdBy=9efb2014947, createdName=小小小麦兜, createdTime=Tue Jul 31 17:59:32 CST 2018, time=2018-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335350, encodeId=84d43353501b, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=65, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=82311653708, createdName=医者仁心5538, createdTime=Tue Jul 31 13:45:27 CST 2018, time=2018-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335336, encodeId=aa6b335336cc, content=总结的很全面,用法用量不良反应都讲解的非常详细,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTKcmgibQ4oCrK7Z6f4CvMcs4k7QUGCkhopcGxvxaBfVciadECSIwaRVttllIOEKumpEaRrq5PoOUxow/0, createdBy=e3bb2081203, createdName=哈哈869, createdTime=Tue Jul 31 13:12:53 CST 2018, time=2018-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335332, encodeId=b71c3353323b, content=学习了,谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=18, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Tue Jul 31 13:03:37 CST 2018, time=2018-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335331, encodeId=ab89335331ec, content=学习了,谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Tue Jul 31 13:03:22 CST 2018, time=2018-07-31, status=1, ipAttribution=)]
    2018-07-31 小小小麦兜

    学习了

    0

  7. 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encryptionId=e947e198270, topicName=皮肌炎)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=467c360, createdName=yuanming7, createdTime=Thu Aug 02 03:21:00 CST 2018, time=2018-08-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335414, encodeId=2dd1335414bd, content=认真学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/iaZNoEMO3BP2wXbOyFTHLDJmuA2X1IqR5bxibrhzR4wAMKaLBSMp5uViczxnT7QoRr9SfC5C3Ul6GAwSCpp08ejlQ/132, createdBy=32931299906, createdName=zxppyq, createdTime=Wed Aug 01 00:27:29 CST 2018, time=2018-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335375, encodeId=0d563353e511, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[], 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topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Tue Jul 31 13:03:22 CST 2018, time=2018-07-31, status=1, ipAttribution=)]
    2018-07-31 医者仁心5538

    学习了

    0

  8. 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topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Tue Jul 31 13:03:22 CST 2018, time=2018-07-31, status=1, ipAttribution=)]
    2018-07-31 哈哈869

    总结的很全面,用法用量不良反应都讲解的非常详细,谢谢分享

    0

  9. 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encryptionId=e947e198270, topicName=皮肌炎)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=467c360, createdName=yuanming7, createdTime=Thu Aug 02 03:21:00 CST 2018, time=2018-08-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335414, encodeId=2dd1335414bd, content=认真学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/iaZNoEMO3BP2wXbOyFTHLDJmuA2X1IqR5bxibrhzR4wAMKaLBSMp5uViczxnT7QoRr9SfC5C3Ul6GAwSCpp08ejlQ/132, createdBy=32931299906, createdName=zxppyq, createdTime=Wed Aug 01 00:27:29 CST 2018, time=2018-08-01, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335375, encodeId=0d563353e511, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[], 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createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTKcmgibQ4oCrK7Z6f4CvMcs4k7QUGCkhopcGxvxaBfVciadECSIwaRVttllIOEKumpEaRrq5PoOUxow/0, createdBy=e3bb2081203, createdName=哈哈869, createdTime=Tue Jul 31 13:12:53 CST 2018, time=2018-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335332, encodeId=b71c3353323b, content=学习了,谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=18, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Tue Jul 31 13:03:37 CST 2018, time=2018-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335331, encodeId=ab89335331ec, content=学习了,谢谢分享。, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Tue Jul 31 13:03:22 CST 2018, time=2018-07-31, status=1, ipAttribution=)]
    2018-07-31 惠映实验室

    学习了,谢谢分享。

    0

  10. 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createdName=12499e01m47暂无昵称, createdTime=Mon Feb 25 15:21:00 CST 2019, time=2019-02-25, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=336231, encodeId=6aef336231fe, content=学习学习很好, beContent=null, objectType=article, channel=null, level=null, likeNumber=59, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTKibA62IFMeUJEmSyIe8DvYFeERuOsfrRd8iano7nENqQU1dRR3tqeQOUL3eqgYgEZRT2t2iaEsib0JEw/132, createdBy=66771693911, createdName=易水河, createdTime=Sat Aug 04 08:49:24 CST 2018, time=2018-08-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1309269, encodeId=8d1913092692b, content=<a href='/topic/show?id=e947e198270' target=_blank style='color:#2F92EE;'>#皮肌炎#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=40, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71982, 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attachment=null, authenticateStatus=null, createdAvatar=http://login.medsci.cn/upload/avatar/f3d88083d8829740786bed95c22464d1/e325f3af93bb747a620d16c209094d69.jpg, createdBy=9efb2014947, createdName=小小小麦兜, createdTime=Tue Jul 31 17:59:32 CST 2018, time=2018-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335350, encodeId=84d43353501b, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=65, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=82311653708, createdName=医者仁心5538, createdTime=Tue Jul 31 13:45:27 CST 2018, time=2018-07-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=335336, encodeId=aa6b335336cc, content=总结的很全面,用法用量不良反应都讲解的非常详细,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, 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topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Tue Jul 31 13:03:22 CST 2018, time=2018-07-31, status=1, ipAttribution=)]
    2018-07-31 惠映实验室

    学习了,谢谢分享。

    0

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