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Autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency: An adjunctive role for omalizumab DOCK8缺乏引起的常染色体隐性高IgE综合征:奥马珠单抗的辅助作用
IF 1 Q4 Medicine Pub Date : 2022-08-25 DOI: 10.1002/cia2.12273
Kim Han Nguyen MD, Quynh Anh Nguyen MD, MSc, Mai Hoang Tran MSc, Thu Thuy Can BS, Mai Thi Vu MD, MSc, Nam Sy Vo PhD, Hieu Chu Chi PhD, Sheryl van Nunen MBBS, MM(Sleep Medicine), FRACP, Dinh Van Nguyen MD, PhD

Autosomal recessive hyper-IgE syndrome (AR-HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe allergies, and early-onset malignancies, associated with mutations in the gene encoding the dedicator of cytokinesis 8 protein (DOCK8). We report a rare case of AR-HIES with DOCK8 deficiency in a young Japanese male with a past medical history of chronic atopic dermatitis, severe food allergies, and severe herpes simplex virus infection. Treatment was successfully based on infection management, skincare, and dietary elimination. In addition, anti-IgE therapy with omalizumab was the target treatment for this syndrome.

常染色体隐性高IgE综合征(AR - HIES)是一种罕见的原发性免疫缺陷疾病,其特征是血清IgE水平高,反复出现的病毒性皮肤感染,严重过敏和早发性恶性肿瘤,与编码细胞分裂8蛋白(DOCK8)的基因突变有关。我们报告一例罕见的AR - HIES伴DOCK8缺乏症,患者为日本年轻男性,既往有慢性特应性皮炎、严重食物过敏和严重单纯疱疹病毒感染病史。治疗成功的基础上感染管理,皮肤护理和饮食消除。此外,使用omalizumab进行抗IgE治疗是该综合征的目标治疗。
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引用次数: 1
Persistent varicella zoster virus infection following mRNA COVID-19 vaccination was associated with the presence of encoded spike protein in the lesion mRNA COVID - 19疫苗接种后持续水痘带状疱疹病毒感染与病变中编码刺突蛋白的存在相关
IF 1 Q4 Medicine Pub Date : 2022-08-25 DOI: 10.1002/cia2.12278
Mayuko Yamamoto MD, PhD, Misaki Kase MD, Hozumi Sano MD, Reiko Kamijima, Shigetoshi Sano MD, PhD

Background

Since the campaign of vaccination against COVID-19 was started, a wide variety of cutaneous adverse effects after vaccination has been documented worldwide. Varicella zoster virus (VZV) reactivation was reportedly the most frequent cutaneous reaction in men after administration of mRNA COVID-19 vaccines, especially BNT162b2.

Aims

A patient, who had persistent skin lesions after BNT162b2 vaccination for such a long duration over 3 months, was investigated for VZV virus and any involvement of vaccine-derived spike protein.

Materials & Methods

Immunohistochemistry for detection of VZV virus and the spike protein encoded by mRNA COVID-19 vaccine. PCR analysis for VZV virus.

Results

The diagnosis of VZV infection was made for these lesions using PCR analyses and immunohistochemistry. Strikingly, the vaccine-encoded spike protein of the COVID-19 virus was expressed in the vesicular keratinocytes and endothelial cells in the dermis.

Discussion

mRNA COVID-19 vaccination might induce persistent VZV reactivation through perturbing the immune system, although it remained elusive whether the expressed spike protein played a pathogenic role.

Conclusion

We presented a case of persistent VZV infection following mRNA COVID-19 vaccination and the presence of spike protein in the affected skin. Further vigilance of the vaccine side effect and investigation for the role of SP is warranted.

自开展针对COVID - 19的疫苗接种运动以来,在世界范围内记录了疫苗接种后各种皮肤不良反应。据报道,水痘带状疱疹病毒(VZV)再激活是男性接种mRNA COVID - 19疫苗后最常见的皮肤反应,尤其是BNT162b2。
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引用次数: 14
A case of COVID-19 with pernio-like skin lesions and increased red blood cell distribution width 1例新冠肺炎合并腹股沟样皮肤病变和红细胞分布宽度增加
IF 1 Q4 Medicine Pub Date : 2022-08-15 DOI: 10.1002/cia2.12272
Satoko Minakawa MD, PhD, Yasushi Matsuzaki MD, PhD, Akari Terada MD, Shu Ogasawara PhD, Yuki Nishiya MD, PhD, Jin Irie MD, PhD, Yoshiya Ishizawa MD, PhD, Hiroyuki Hanada MD, PhD, Daisuke Sawamura MD, PhD

Coronavirus disease 2019 (COVID-19) is related to cutaneous manifestations.1 Previous reports indicate that pernio-like lesions are cutaneous manifestations of COVID-19.1, 2 We report a case of pernio-like lesions related to COVID-19.

A 74-year-old Japanese woman with diabetes and hypertension was diagnosed with COVID-19. She was living with her daughter's family, who had also been diagnosed with COVID-19. On illness day 6, she presented to our emergency department with malaise and worsening shortness of breath (saturation percentage of oxygen in the artery blood 74%). The chest radiograph detected her bilateral interstitial pneumonia, and the treatment of artificial respiration started. Favipiravir, dexamethasone, remdesivir, and empiric antibiotic therapy were administrated because of a positive blood culture (Corynebacterium striatum, Klebsiella species). She was given lactulose, subcutaneous low molecular heparin, and continuous intravenous heparin infusion for prevent COVID-19-related thrombosis. On illness day 13, her breathing became worse. Extracorporeal membrane oxygenation was started. On illness day 25, erythema was seen on her body. On illness day 27, erythema and maculopapular exanthema appeared on her trunk (Figure 1A), legs (Figure 1B), and hands (Figure 1C). A hemorrhagic rash appeared on her hands (Figure 1D). Pernio-like lesions were seen on her fingers (Figure 1E,F) and toes. Laboratory inspection clarified a normal white blood cell count (5860/mm), normal liver and kidney function, decreased hemoglobin (10.1 g/dl; normal range: 10.6–14.4 g/dl), hematocrit (31.5%; normal range: 32.1%–42.7%), platelet count (45,000/mm; normal range: 13,800–309,000/mm), increased C-reactive protein (CRP, 10.56 mg/dl; normal range <0.3 mg/dl), lactate dehydrogenase (LD, 346 U/L; normal range: 119–229 U/L), fibrinogen-fibrin degradation product (FDP, 113.8 μg/ml; normal range <5.0 μg/ml), dimerized plasmin fragment D (D-dimer, 55.5 μg/ml; normal range <1.0 μg/ml), and red blood cell distribution width (RDW, 16.2%; normal range 11.5%–13.8%). Over the following days, gradual spontaneous improvement of skin lesions occurred. However, she became the cerebral infarction and died on illness day 44.

Previous studies found that 318 of 505 (63%) patients with dermatologic symptoms related to COVID-19 had pernio-like lesions.3 Pernio-like lesions were sole symptoms in the 55% of patients.3 Retiform purpura presented entirely in inpatients.1 Mechanisms of COVID-19 coagulopathy have been proposed. In a hypercoagulable situation, the crosstalk between the inflammatory and hemostatic systems may advance for thrombosis in COVID-19.4 Heparin resistance was observed in patients with COVID-19 infectious disease of the serious case.4

Elevated RDW is associate

在活动性严重新冠肺炎-19感染患者中观察到肝素耐药性。红细胞分布(RDW)是反映细胞体积变化的全血细胞计数的一个组成部分,已被证明与多种疾病的发病率和死亡率升高有关。皮肤表现、RDW以及LD和D-二聚体水平可能是COVID-19患者分型的有用生物标志物。
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引用次数: 0
A case of patch granuloma annulare with CD68-negative, CD163-positive M2 macrophages infiltration in an interstitial pattern 环状斑块性肉芽肿伴CD68阴性、CD163阳性M2巨噬细胞间质浸润1例
IF 1 Q4 Medicine Pub Date : 2022-07-27 DOI: 10.1002/cia2.12260
Kenta Ikeda MD, Kazuko Mizuno MD, PhD, Osamu Yamasaki MD, PhD, Shin Morizane MD, PhD

Patch granuloma annulare is a rare type of granuloma annulare. Histopathologically, patch granuloma annulare shows interstitial infiltration of histiocytes. In our case, immunohistochemical analyses demonstrated CD68-negative, CD163-positive M2 macrophages infiltration in an interstitial pattern.

环状斑块肉芽肿(GA)是一种罕见的肉芽肿类型,其特征是无症状和非特异性皮肤变色,进展缓慢在组织病理学上,斑块型GA表现为间质型,而经典型GA通常表现为栅栏型,两者在免疫组织化学上的表现不同在此,我们报告一例环状斑块性肉芽肿伴cd68阴性、cd163阳性M2巨噬细胞间质浸润。
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引用次数: 0
Evaluation of sweating responses in patients with systemic connective tissue disorders using the quantitative sudomotor axon reflex test 用定量性强动性轴突反射试验评价全身性结缔组织疾病患者的出汗反应
IF 1 Q4 Medicine Pub Date : 2022-07-27 DOI: 10.1002/cia2.12269
Miwa Ashida MD, Shimpei Morimoto PhD, Mariko Yozaki MT, Daisuke Ehara MD, Yuta Koike MD, PhD, Hiroyuki Murota MD, PhD

Background

In systemic connective tissue disorders, eccrine sweat glands are frequently attacked by immune cells, as evidenced by pathological observations.

Aims

Sweating affects vascular activity through the autonomic nervous system, while few studies have reported sweating ability in systemic connective tissue disorders or the relationship between sweating ability and Raynaud's phenomenon caused by sympathetic hyperreactivity.

Materials & methods

We performed the quantitative sudomotor axon reflex test on 85 patients diagnosed with systemic sclerosis, mixed connective tissue disease, systemic lupus erythematosus, Sjogren's syndrome, and dermatomyositis. Evaluations were performed once in summer and once in winter. We investigated the relationship between the axon reflex sweat volume or the reaction time and Raynaud's phenomenon assessed by a Raynaud's condition score, skin symptoms such as nailfold capillary changes, skin sclerosis severity, digital ulcers, chilblains, subcutaneous calcifications, and telangiectasia, and patient background.

Results

Most patients did not show a decrease in sweating compared to healthy participants, but patients with systemic sclerosis who were positive for anti-RNA polymerase III antibodies showed little or no sweating. One in three patients showed less sweating in summer than in winter, which is the opposite of the normal seasonal variation. Although no relationship was observed between the sweat volume and the total Raynaud's condition scores, patients with pain had more sweating than those without pain.

Conclusion

This is the first exploratory observational study of sweating ability in patients with systemic connective tissue disorders, revealing several clinical factors associated with acetylcholine-induced sweating.

病理学观察表明,在系统性结缔组织疾病中,小汗腺经常受到免疫细胞的攻击。
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引用次数: 0
A case of psoriasiform drug eruption caused by temozolomide 替莫唑胺致银屑病样药疹1例
IF 1 Q4 Medicine Pub Date : 2022-07-27 DOI: 10.1002/cia2.12263
Tokuko Oguro MD, Kimiko Nakajima MD, PhD, Natsuko Aoki MD, Mayuko Yamamoto MD, PhD, Shigetoshi Sano MD, PhD

Psoriasiform drug eruption is defined as condition similar to psoriasis triggered by drug administration, including de novo development of psoriasis or exacerbation of pre-existing psoriasis. Herein, we describe a 52-year-old Japanese woman, who developed disseminated psoriasiform lesions following administration of temozolomide, a remedy for glioblastoma, although cutaneous adverse events by this drug was very rare. In addition, we assume that altered inflammatory signals associated with psoriasis, such as activation of signal transducer and activator of transcription 3 (STAT3), might be involved in the underlying pathomechanism of drug eruption caused by temozolomide.

银屑病样药疹是指由给药引发的类似银屑病的情况,包括银屑病的新发或先前存在的银屑病的恶化。在此,我们描述了一名52岁的日本女性,她在服用替莫唑胺(一种治疗胶质母细胞瘤的药物)后出现播散性银屑病样病变,尽管该药物的皮肤不良事件非常罕见。此外,我们认为与银屑病相关的炎症信号改变,如信号转导子和转录激活子3(STAT3)的激活,可能参与替莫唑胺引起药疹的潜在病理机制。
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引用次数: 1
Malignant melanoma of inner canthus with long-term survival after resection of brain metastasis and treatment with ipilimumab 脑转移瘤切除后内眼角恶性黑色素瘤的长期生存及易普利木单抗治疗
IF 1 Q4 Medicine Pub Date : 2022-07-15 DOI: 10.1002/cia2.12268
Masahito Yasuda MD, PhD, Akihito Uehara MD, PhD, Shintaro Saito MD, Yuko Kuriyama MD, PhD, Kazuya Yamada MD, PhD, Aina Oka MD, Marie Miyagawa MD, Osamu Ishikawa MD, PhD, Sei-Ichiro Motegi MD, PhD

Cerebellar metastasis from malignant melanoma of the inner canthus was resected. The patient was subsequently treated with ipilimumab and has remained disease-free 6 years, however, developed sarcoidosis.

远处转移的恶性黑色素瘤最近已经用免疫检查点抑制剂(ICIs)或BRAF抑制剂治疗。这些抑制剂能够改善恶性黑色素瘤的预后。然而,脑转移患者的预后仍然很差一名45岁日本女性于4年前内眼角出现黑色结节并逐渐增大。体格检查显示一个30 × 27毫米大小,淡红色到黑紫色的结节,呈息肉状突起,伴周围毛细血管扩张(图1A)。我们临床诊断为恶性黑色素瘤。FDGPET未发现淋巴结及远处转移。切除肿瘤1厘米边缘,行前哨淋巴结活检。病理表现为非典型肿瘤细胞
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引用次数: 0
Successful management of hereditary angioedema with icatibant during the postpartum period icatibant成功治疗产后遗传性血管性水肿
IF 1 Q4 Medicine Pub Date : 2022-07-07 DOI: 10.1002/cia2.12267
Yukari Kondo MD, Aki Yoshimura MD, Noriko Azuma MD

A. Facial swelling during a hereditary angioedema (HAE) attack. B. Computed tomography image of the abdomen with intestinal edema during an HAE attack. C. Histogram of the frequency of monthly HAE attacks during self-administration of icatibant. The asterisk indicates when HAE attacks were treated by on-demand injection of plasma-derived C1 inhibitor at the emergency room.

遗传性血管性水肿(HAE)是一种临床症状多变的罕见疾病。女性患者往往受到更严重的影响,因为雌激素在血管性水肿发作中起作用。尽管在围产期处理HAE的紧迫性,但由于缺乏基于病例的报告,使用icatibant(一种缓激肽受体拮抗剂)的安全性尚未得到证实一名日本女性因反复发作的呼吸困难、腹痛、手指和面部水肿而被转介至我院(图1A)。她根据家族史被诊断为HAE, C1INH功能活性下降(<25%;正常,70% - 130%)和C4水平(5.0 mg/ dl;正常,1134 mg/dl),计算机断层扫描显示肠壁厚度增加(图1B)。她在急症室接受了偶尔的按需静脉注射1000 IU等离子体合成C1INH (pdC1INH)的治疗。她在35岁时通过人工受精怀孕。在怀孕期间,她通过按需注射pdC1INH来控制HAE发作。在分娩和其他侵入性医疗过程中,短期预防使用pdC1INH,这是当时日本唯一接受的妊娠HAE患者的治疗方法。36岁时,她生了孩子并开始母乳喂养。分娩后4个月,在知情同意并被告知icatibant在母乳喂养期间的风险和益处后,她开始皮下自我施用icatibant 30mg,作为产后HAE发作的管理。Icatibant
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引用次数: 0
Recurrent pregnancy-associated erythema annulare centrifugum in a single gestation period 单次妊娠期复发的妊娠相关离心性环状红斑
IF 1 Q4 Medicine Pub Date : 2022-07-06 DOI: 10.1002/cia2.12266
Kie Imura MD, Yurika Masuda MD, Yuko Sano MD, Hiroaki Yagi MD, PhD

Erythema annulare centrifugum (EAC) is reportedly related to many factors such as immunological disorders, infections, malignancies, foods, and drugs. Pregnancy-associated EAC is extremely rare, with only six cases reported in the literature.1-6 To date, there have been no reports of EAC that disappeared and recurred during a single gestation period.

A 34-year-old woman visited our department in the 36th week of her first pregnancy with asymptomatic multiple annular erythematous lesions on the legs. On the examination, the erythematous areas were slightly raised and had slight scales (Figure 1A, B). She reported that the eruption had first appeared in week 10 and spontaneously disappeared within 2 months, then reappeared in week 28 and gradually enlarged centrifugally and increased in number. This was confirmed in serial photographs she had taken. Skin biopsy revealed hyperkeratosis, parakeratosis, mild spongiosis in the epidermis, and a superficial perivascular lymphohistiocytic infiltrate (Figure 1C). She was in good health and had not taken any medication or vaccination during the pregnancy. She had a good pregnancy course except that the fetus was in the breech position. The laboratory test results were normal, including complete blood count, renal and hepatic functions indices, immunoglobulins, antinuclear antibodies, anti-SS-A and anti-SS-B antibodies, and rheumatoid factors. She had no evidence of Sjögren syndrome. She delivered a healthy baby by elective cesarean section in week 38. Although all the erythematous lesions had been increasing in number and enlarging until the delivery, they started to disappear within 2 days after the delivery and wholly resolved within 1 month without any treatment. No recurrence was observed during 4 years of follow-up.

In all six reported cases of pregnancy-associated EAC, including ours, eruptions appeared during the first pregnancy. The onset of the lesions occurred in week 12 in two cases and weeks 26–33 in four.1-6 The lesions improved in weeks 33–36 in two cases, and at 3 days to 1 month postpartum in four. These findings suggest that the change in maternal hormone levels during pregnancy is a crucial etiological factor.5 The major possible causative candidates include estrogen, progesterone, and human chorionic gonadotropin (hCG).6 The secretion of hCG differs from that of the other hormones and many other placental proteins. hCG is first detected in maternal serum within 9 days after conception. The hCG levels then rise in a logarithmic fashion, peaking at 8–10 weeks after the last menstrual period, followed by a decline to a nadir at 18 weeks, with subsequent levels remaining constant or slightly increasing in some individuals until delivery.7, 8 The concentrations of estrogen and progesterone gradually increase and are maintained at high concentrations until deliv

据报道,环状离心性红斑(EAC)与许多因素有关,如免疫紊乱、感染、恶性肿瘤、食物和药物。妊娠相关EAC极为罕见,文献中仅报道了6例。1-6迄今为止,还没有关于EAC在单个妊娠期内消失和复发的报告。一位34岁的女性在她第一次怀孕的第36周来我科就诊,她腿部出现了无症状的多发性环状红斑。检查时,红斑区域轻微隆起,有轻微鳞屑(图1A、B)。她报告说,火山喷发最初出现在第10周,在2个月内自发消失,然后在第28周再次出现,并逐渐离心扩大,数量增加。她拍摄的一系列照片证实了这一点。皮肤活检显示表皮角化过度、角化不全、轻度海绵状血管病和浅表血管周围淋巴组织细胞浸润(图1C)。她健康状况良好,在怀孕期间没有服用任何药物或接种任何疫苗。除了胎儿处于臀位外,她的妊娠过程很顺利。实验室检测结果正常,包括全血细胞计数、肾和肝功能指数、免疫球蛋白、抗核抗体、抗SSA和抗SSB抗体以及类风湿因子。她没有干燥综合征的证据。她在第38周通过选择性剖宫产产术产下了一个健康的婴儿。尽管所有红斑病变在分娩前数量一直在增加和扩大,但在分娩后2天内开始消失,并在1个月内完全消退,无需任何治疗。在4年的随访中没有观察到复发。在所有六例报告的妊娠相关EAC病例中,包括我们的病例,皮疹出现在第一次妊娠期间。2例在第12周出现病变,4例在第26-33周出现病变。1-6 2例在33-36周出现病变改善,4例产后3天至1个月出现病变改善。这些发现表明,妊娠期间母体激素水平的变化是一个关键的病因。5可能的主要病因包括F I G U R E 1临床和组织病理学特征。(A,B)首次妊娠第36周出现无症状的多发性环状红斑病变。(C) 红斑病变的组织病理学表现为表皮角化过度、角化不全、轻度海绵状血管病和真皮浅表血管周淋巴组织细胞浸润(a)(B)
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引用次数: 0
Prior antihistamine agent successfully impaired cutaneous adverse reactions to COVID-19 vaccine 先前的抗组胺药物成功地减弱了对COVID - 19疫苗的皮肤不良反应
IF 1 Q4 Medicine Pub Date : 2022-07-06 DOI: 10.1002/cia2.12248
Hikaru Nanamori MD, Yu Sawada MD, PhD, Sayaka Sato MD, Reiko Hara MD, Yoko Minokawa MD, Hitomi Sugino MD, Natsuko Saito-Sasaki MD, PhD, Kayo Yamamoto MD, Etsuko Okada MD, PhD, Motonobu Nakamura MD, PhD

The coronavirus disease 2019 (COVID-19) vaccine is positively changing the health crises of this pandemic and is currently essential to overcome the COVID-19 pandemic. The vaccine shows high efficacy against the infection and impairs the severity of symptoms. However, this vaccination is associated with concerns, such as vaccine-associated adverse reactions, which are currently highlighted issues for clinicians. We experienced two cases of mild cutaneous adverse reaction following COVID-19 vaccine administration, which was successfully controlled by prior administration of the antihistamine agent fexofenadine 3 days before COVID-19 vaccination for 7 days.

2019冠状病毒病(COVID-19)疫苗正在积极改变这场大流行的健康危机,目前对克服COVID-19-19大流行至关重要。该疫苗对感染显示出很高的疗效,并减轻了症状的严重程度。然而,这种疫苗接种与担忧有关,例如疫苗相关的不良反应,这是临床医生目前关注的问题。我们经历了两例新冠肺炎疫苗接种后的轻度皮肤不良反应,通过之前服用抗组胺药非索非那定3成功控制了这种反应 接种新冠肺炎疫苗前7天 天。
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引用次数: 0
期刊
Journal of Cutaneous Immunology and Allergy
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