特发性炎症性皮肌病中自身抗体的研究进展

特发性炎症性皮肌病,包括皮肌病、临床无肌病性皮肌炎和多发性肌炎.不同类型的特发性炎症性皮肌病可累及不同靶器官如皮肤、肺和肌肉等,临床表现比较复杂.肌炎特异性自身抗体和肌炎相关性自身抗体在特发性炎症性皮肌病中阳性率较高,与临床特征密切相关,在诊断中更具有特异性.部分患者血清中还存在一些与肌炎发生关系不密切的自身抗体,如抗临床无肌病性皮肌炎-140抗体、抗小泛素样修饰酶抗体,因此不应称之为肌炎特异性自身抗体,而应单独列为特发性炎症性皮肌病的特异性抗体.     

皮肌炎皮疹与间质性肺病相关性的研究进展

皮肌炎是一种常见的自身免疫性结缔组织病,主要累及皮肤和骨骼肌,也可累及内脏器官（如肺、心脏、胃肠道等）。典型皮肌炎同时有皮损和肌肉损害;临床无肌病性皮肌炎有超过6个月的持续特征性皮疹而无肌炎表现［1］。间质性肺病（interstitial lung disease,ILD）是皮肌炎患者主要的死因之一,组织病理表现为弥漫性肺实质、肺泡炎症和间质纤维化,临床表现为活动性呼吸困难［2］。ILD起病初期无特殊症状,难以识别,诊断主要靠高分辨率CT……     

儿童无肌病性皮肌炎1例

报告1例具有典型的皮肌炎皮疹而无肌肉受累的儿童无肌病性皮肌炎患者。结合文献对本病的临床表现、诊断及治疗进行讨论。本病的诊断需临床、病理与实验室检查相结合。     

皮肌炎/多发性肌炎患者中单核细胞/淋巴细胞的比值与合并肿瘤的相关性分析

皮肌炎（dermatomyositis,DM）和多发性肌炎（polymyositis,PM）是一种自身免疫性结缔组织病,肌肉炎症是该疾病的主要特征。皮肌炎导致四肢近端肌群无力和残疾,皮肤损害,溃疡,钙沉着症,并发间质性肺炎~（[1]）。部分成人患者并发恶性肿瘤。恶性肿瘤、心肺受累是患者死亡的主要原因。因此,早期诊断炎性肌病合并肿瘤非常必要。     

皮肌炎并发乳腺癌及乳房Paget病

报告1例并发乳腺癌和乳房Paget病的皮肌炎.患者女,51岁,右乳房出现肿物20余年,红斑、糜烂4年,面部及四肢红斑、丘疹伴肌痛2个月余,根据临床表现结合组织病理检查结果确诊为皮肌炎并发乳腺癌及乳房Paget病.     

成人皮肌炎患者抗核抗体与临床特征及肿瘤风险的关系

【摘要】 目的 探讨成人皮肌炎患者抗核抗体与临床特征及肿瘤风险的关系。方法 回顾性分析2008年4月至2018年4月在苏州大学附属第一医院皮肤科住院的101例皮肌炎患者的临床资料,分为抗核抗体阳性组和阴性组,比较两组之间肌病、肿瘤发生风险以及其他临床特征的差异。92例患者随访2年。采用卡方检验分析比较两组的临床特征,利用多因素回归分析模型分析抗核抗体和无肌病性皮肌炎及肿瘤之间的关系。结果 101例皮肌炎患者中,男42例,女59例,年龄（55.13 ± 14.63）岁;无肌病性皮肌炎14例,低肌病性皮肌炎6例,肌病性皮肌炎81例;抗核抗体阳性42例（41.58%）,阴性59例（58.41%）。抗核抗体阳性组颈部红斑（33.33%比59.32%,P = 0.010）、披肩征（14.28%比35.59%,P = 0.017）发生率低于阴性组。皮肌炎合并肿瘤28例（27.72%）。抗核抗体阳性者5例（11.9%）发生肿瘤,阴性者23例（38.98%）发生肿瘤。单因素分析显示,抗核抗体阴性皮肌炎患者发生肿瘤的相对危险度估计值比值比为7.52（95% CI 1.62 ~ 13.78,P = 0.003）。在多因素回归模型中,抗核抗体阴性（OR值4.34,95% CI 1.37 ~ 13.72,P = 0.012）和颈部红斑（OR = 3.27,95% CI 1.20 ~ 8.91,P = 0.020）与肿瘤高发概率显著相关,抗核抗体阴性与无肌病性皮肌炎的发生无统计学相关性（OR = 0.99,95% CI 0.32 ~ 2.99,P = 0.980）。结论 抗核抗体阴性且伴颈部红斑的成人皮肌炎患者发生肿瘤的风险明显增加,有必要对这类皮肌炎患者进行密切随访和定期肿瘤筛查。     

无肌病性皮肌炎1例

报告1例无肌病性皮肌炎。患者女,55岁,眼睑红肿、面部头及皮红斑,伴瘙痒反复发生8年。发病以来无肌肉损害的临床表现,与肌肉损害有关的实验室检查及免疫学指标均正常,皮损的组织病理检查结果符合皮肌炎诊断。     

青少年与成人皮肌炎/多发性肌炎的比较分析

目的：探讨青少年皮肌炎/多发性肌炎（JDM/PM）的临床表现和预后特点。方法：比较分析25例JDM/PM与143例成人皮肌炎/多发性肌炎（DM/PM）的临床表现、辅助检查结果及预后情况。结果：与成人DM/PM相比,JDM/PM男多于女;初发症状中肌痛和体重下降较少见,临床表现中光敏较多见,较少出现肌痛、咽喉部肌群受累、消瘦和肺、胸膜受累;未见并发恶性肿瘤和死亡;血、尿常规,免疫学,血清酶,肌电图及肌活检结果等则与成人无统计学差异。结论：JDM/PM具有一定的临床表现特征,肺、胸膜较少累及,预后较好。     

类风湿关节炎、多发性肌炎和混合结缔组织病重叠综合征1例

2006年8月我科收治1例类风湿关节炎（RA）、多发性肌炎（PM）和混合结缔组织病（MCTD）的重叠综合征患者,现报告如下．     

线状硬斑病107例临床及影像学特点回顾性分析

【摘要】 目的 分析不同亚型线状硬斑病（LM）的临床表现、实验室及影像学检查特点, 对LM的诊断和病情评估方法提出建议。方法 回顾性分析2018年1月至2019年12月四川大学华西医院皮肤科门诊经临床和/或病理确诊的LM患者的临床资料。结果 共纳入107例LM患者,肢体LM 63例,刀劈状硬斑病22例,进行性颜面偏侧萎缩和嗜酸性筋膜炎各11例。88例患者接受改良局限性硬皮病皮肤严重指数（mLoSSI）和皮肤损伤指数（LoSDI）评分,mLoSSI评分为0～51分,LoSDI评分为0～40分。10例嗜酸性筋膜炎患者行血常规检查,4例嗜酸性粒细胞增高。88例LM患者行抗核抗体检查,13例（14.8%）阳性（滴度 ≥ 1∶320）。4例进行性颜面偏侧萎缩患者行核磁共振成像（MRI）检查2例出现同侧大脑半球萎缩及对侧白质区T2高信号;肢体LM 28例中26例（92.9%）MRI表现为肌筋膜增厚,嗜酸性筋膜炎患者11例MRI均可见皮下脂肪间隔和肌筋膜增厚。结论 mLoSSI和LoSDI可对LM的疾病活动性、严重程度及预后做出初步评估;对临床提示有深部受累的患者,建议行MRI检查。     

Dermatomiositis paraneoplásica: estudio de 12 casos

Introduction and objectivesAdult dermatomyositis presents as a paraneoplastic syndrome in up to 25% of cases, but no clinical, histologic, or laboratory markers completely specific for paraneoplastic disease in dermatomyositis have been identified to date. Furthermore, studies on adult dermatomyositis do not usually report the frequency of cutaneous features of dermatomyositis in patients with associated cancer. Our aim was to review the characteristics of paraneoplastic dermatomyositis in patients seen at our hospital.Material and methodsWe studied 12 cases of paraneoplastic dermatomyositis and recorded patient age and sex, associated cancer, time between onset of dermatomyositis and cancer, emergent cutaneous manifestations, muscle involvement, dysphagia, lung disease, and levels of creatine phosphokinase and circulating autoantibodies.ResultsThe mean age of the patients was 61 years and the 2 most common malignancies were ovarian cancer and bladder cancer. The mean time between the diagnosis of cancer and dermatomyositis was 7 months and in most cases, the cancer was diagnosed first. Seven patients had amyopathic dermatomyositis. The most common cutaneous signs were a violaceous photodistributed rash sparing the interscapular area and a heliotrope rash, followed by Gottron papules and cuticle involvement. Superficial cutaneous necrosis was observed in 3 cases. Myositis-specific autoantibodies were not detected in any of the 6 patients who underwent this test.ConclusionsParaneoplastic dermatomyositis is often amyopathic. There are no specific cutaneous markers for malignancy in dermatomyositis. Myositis-specific antibodies are not associated with paraneoplastic dermatomyositis.     

Dermatomyositis. Disease associations and an evaluation of screening investigations for malignancy

Fifty-three adult patients (19 men, 34 women) with dermatomyositis were studied. Two had dermatomyositis associated with benign disorders. Twenty-three (43%) had a malignancy; the risk of malignancy increased with age, but there was no sex difference. Seven malignancies were recurrences and 9 were diagnosed during investigation of dermatomyositis; these 16 were suspected clinically or from abnormal results of simple investigations. Extensive screening tests did not increase the number of malignancies diagnosed. In 7 patients, a diagnosis of malignancy was made more than 9 months after onset of dermatomyositis, although a relationship between malignancy and dermatomyositis was uncertain in two cases; the diagnosis of gynecological malignancy was missed in 2 patients despite appropriate investigations, 1 patient had poorly controlled dermatomyositis, and in 2 patients late diagnosis of malignancy was due to failure to reinvestigate relapse of previously stable dermatomyositis.     

Regression of primary melanoma with metastases associated with amyopathic dermatomyositis

BACKGROUND: Dermatomyositis is a rare and serious inflammatory connective tissue disease characterized by a typical cutaneous rash and myopathy. Amyopathic dermatomyositis is a particular form of dermatomyositis involving only cutaneous signs and without myopathy present for over 2 years. PATIENTS AND METHODS: A 48 year-old woman presented with a 3-year history of cutaneous rash without myopathy characteristic of amyopathic dermatomyositis. Clinical examination revealed extensive axillary adenopathy, histological examination of which suggested secondary melanoma. The patient reported a black nevus in the axillary area that had disappeared 1 year earlier. Curettage of the lymph node was negative and the patient was treated with interferon (3M 3 times a week). Regression of the cutaneous signs was noted. DISCUSSION: The data, there have been no other reports of paraneoplastic amyopathic dermatomyositis associated with regression of primary melanoma. The literature contains few reports of dermatomyositis associated with melanoma. Amyopathic dermatomyositis may be associated with malignancy.     

Amyopathic dermatomyositis associated with a recurrence of breast cancer

The term "amyopathic dermatomyositis", or dermatomyositis "sine myositis" is used to describe those patients who present with the skin manifestations typical of dermatomyositis, but with no evidence of inflammatory myopathy. Amyopathic dermatomyositis may be associated with an underlying neoplasm, the same as with classic dermatomyositis. We present the case of a 59-year-old female patient, with cutaneous findings typical of dermatomyositis, with no proximal muscle weakness and with normal serum muscle enzymes, which stayed in a normal range throughout the later follow-up period, although the electromyogram performed six months later showed alterations with a myopathic pattern. These skin symptoms raised the suspicion of an occult neoplasm, and a recurrence of the patient's breast cancer, apparently inactive for many years, was finally found. The association of amyopathic dermatomyositis with a recurrence of breast cancer is exceptional.     

Prevalence and reactivity of anti-melanoma differentiation-associated gene 5 (anti-MDA-5) autoantibody in Brazilian patients with dermatomyositis

Background:There have been no studies to date on the frequency and reactivity of aanti-melanoma differentiation-associated gene 5 (anti-MDA-5) in samples from the Brazilian population with dermatomyositis.Objectives.To analyze this autoantibody in the Brazilian population.Methods:This was a single-center cross-sectional study in which 131 consecutive adult patients (109 dermatomyositis and 22 clinically amyopathic dermatomyositis) with active disease were evaluated from 2000 to 2016. Analysis of the anti-MDA-5 autoantibody was performed by ELISA.Results:The presence of this autoantibody was observed in 14.7% and 22.7% of patients with dermatomyositis and clinically amyopathic dermatomyositis, respectively. In the case of dermatomyositis, the autoantibody was associated less frequently with Raynaud’s phenomenon and periungual hyperemia (P<0.05). In clinically amyopathic dermatomyositis, the presence of this autoantibody was not associated statistically with any demographic, clinical, laboratory, or imaging characteristics.Study limitations:The cross-sectional study design did not allow establishing a temporal correlation between anti-MDA-5 autoantibody and various study variables. In addition, pulmonary function tests were not performed in the patients.Conclusions.The frequency of anti-MDA-5 autoantibody was comparable to that of other populations with dermatomyositis, but with a different reactivity than described in the literature. In addition, there was a phenotypic variability between our patients with clinically amyopathic dermatomyositis and those described in the literature. Further studies are needed to confirm the current study’s findings and elucidate this autoantibody’s reactivity in Brazilians with idiopathic inflammatory myopathies.     

Associations of tumor necrosis factor alpha and HLA polymorphisms with adult dermatomyositis: implications for a unique pathogenesis

We recently reported that the -308A tumor necrosis factor alpha promoter polymorphism is associated with the photosensitive disorder subacute cutaneous lupus erythematosus and mediates an exaggerated tumor necrosis factor alpha response to ultraviolet B. We now sought to examine the association of this polymorphism with adult dermatomyositis, a photosensitive disease that exhibits some features in common with subacute cutaneous lupus erythematosus. Fifty adult patients with dermatomyositis and 239 healthy, race-matched controls were examined for the -308A tumor necrosis factor alpha polymorphism and the more common -308G allele. The frequency of the -308A allele was 0.27 in the entire dermatomyositis group, versus 0.14 in the controls (p = 0.003, chi2 2 x 2 table). Caucasians were the only racial/ethnic group in our study large enough to allow separate statistical analysis (47 dermatomyositis, 223 controls). The frequency of the -308A allele was 0.26 for dermatomyositis and 0.14 for controls (p = 0.014). Caucasians are known to exhibit a linkage disequilibrium between -308A and HLA-DR3, which we previously found to be significantly enhanced in subacute cutaneous lupus erythematosus patients. In contrast, we now found no increase in the association of -308A and HLA-DR3 in Caucasians with dermatomyositis compared to controls. Consistent with this observation, the association of these two genes in dermatomyositis was significantly less than we previously reported in Caucasians with subacute cutaneous lupus erythematosus (p = 0.016). We conclude that the tumor necrosis factor -308A polymorphism is associated with dermatomyositis, which suggests a pathophysiologic contribution from ultraviolet-induced production of tumor necrosis factor alpha, similar to subacute cutaneous lupus erythematosus. The differences in linkage with HLA-DR3, as well as several divergent clinical features, indicate that there are also fundamental mechanistic differences between dermatomyositis and subacute cutaneous lupus erythematosus.     

Multiple Sclerotic Fibromas in an HIV‐Positive Patient Without Evidence of Cowden''s Disease

Dermatomyositis is an inflammatory condition of the skin and muscles, and an underlying malignancy is noted in 10% or more of cases. Clinical features of dermatomyositis include increasing general fatigue and proximal (thighs and shoulders) muscle weakness accompanied by erythematous lesions of the skin. There have been several distinct types of dermatomyositis described. Here we describe a case of vesiculo‐bullous dermatomyositis, which is a rare variant of dermatomyositis. A 49‐year‐old woman was admitted to our hospital with a painful erythematous vesicular eruption of the face, trunk and extremities. In addition, edema of the face and fever were observed. Clinically, dermatomyositis was considered because of typical skin rashes (Gottron's papules, periorbital heliotrope rash and poikiloderma) and serum creatine phosphokinase level of 1,031 IU/L. A skin biopsy was performed. Microscopically, subepidermal vesiculation with marked edema was present. Lymphoplasmacytic infiltration was also observed in the upper dermis. So far only a few case reports of vesiculo‐bullous dermatomyositis have been reported in the literature. It should be kept in mind that dermatomyositis may present subepidermal vesiculation in order to avoid a misdiagnosis and unnecessary delayed treatment. Furthermore, an internal malignancy should be considered in such a variant of dermatomyositis.     

Relapse of dermatomyositis after 10 years in remission following curative surgical treatment of lung cancer

A 55-year-old woman with dermatomyositis and small cell lung cancer was successfully treated with surgery followed by combination chemotherapy in 1987. She had been in remission without further immunosuppressive therapy for 10 years. However, myositis with cutaneous manifestations specific for dermatomyositis relapsed when the patient was 69 years old. Intensive examinations revealed no neoplasm, and she responded to a moderate dose of systemic corticosteroids. This case suggests a long-lasting autoimmune abnormality in dermatomyositis and that a neoplasm is an important factor in eliciting an occult dermatomyositis.     

皮肌炎合并肠气囊肿症

报告1例成人皮肌炎合并肠气囊肿症，患者女，38岁。1995年6月因出现四肢肌肉疼痛无力，双上眼睑红肿，伴吞咽困难，饮水呛咳，肌酸磷酸激酶14180U/L，肌电图、肌组织病理检查示皮肌炎改变，诊断为皮肌炎，经治疗症状已缓解数年，近3年来腹泻，便秘交替出现，并伴腹胀，腹部CT检查可见沿肠管分布的特征性多发性气泡状透明区，诊断为皮肌炎伴发肠气囊肿症，该例为国内首报。     

皮肌炎并发恶性肿瘤患者P53蛋白表达的研究

目的：探讨P53蛋白在皮肌炎并发恶性肿瘤过程中的作用。方法：应用免疫组化技术对皮肌炎患者的肿瘤组织细胞及外周血单个核细胞(PBMCs)P53蛋白的表达进行了检测。结果：1例皮肌炎并发卵巢癌患者的肿瘤细胞及PBMCs均表达P53蛋白，另1例皮肌炎并发鼻咽癌患者的肿瘤细胞、浸润单个核细胞及PBMCs均表达P53蛋白。其它15例未并发恶性肿瘤的皮肌炎患者中有1例PBMCs表达P53蛋白。20例正常对照均阴性。结论：p53基因的种系突变在皮肌炎并发恶性肿瘤中可发能发挥重要作用。