Department of Internal Medicine, Faculty of Medicine, Damascus University, Damascus, Syrian Arab Republic.
Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Am J Dermatopathol. 2023 Jun 1;45(6):355-370. doi: 10.1097/DAD.0000000000002345. Epub 2023 Feb 17.
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome is a rare, hereditary, autoinflammatory disease. However, there are few cases reported in the literature. Therefore, we conduct this systematic review to summarize current evidence.
We conducted a systematic search in July 2021 using 11 different electronic databases. The included articles were screened according to our inclusion and exclusion criteria and assessed using an appropriate quality assessment tool. Then, the relevant data were extracted and summarized in tables accordingly. Each step of the previous one was done by 3 independent reviewers, and the conflicts were resolved by discussion and sometimes by counseling a senior member.
The final included studies were 18 articles with 34 cases (mean age = 8 years, male/female = 19/15). The most reported symptoms and signs were fever 97.1%, erythematous plaques 76.5%, arthralgia 67.6%, hepatomegaly 61.8%, violaceous hue 61.8%, lipodystrophy in extremities 53.1% in addition to low weight and height. Rare features were reported too. The laboratories were not specific, which may be explained by a systemic inflammatory response. Vasculitis was the dominant feature in the skin biopsy, whereas the calcification in the basal ganglia was a prominent sign in many cases.
Fever, skin lesions, and systemic inflammatory response were the prominent features of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome. The clinical picture is the main guide in addition to the pathological findings. Mutation detection is the confirmatory test. Prednisolone is the most effective reported treatment for acute presentations in the literature.
伴有脂肪营养不良和发热综合征的慢性非典型中性粒细胞皮肤病是一种罕见的遗传性自身炎症性疾病。然而，文献中报道的病例很少。因此，我们进行了这项系统评价，以总结目前的证据。
我们于 2021 年 7 月进行了系统检索，使用了 11 个不同的电子数据库。根据纳入和排除标准筛选纳入的文章，并使用适当的质量评估工具进行评估。然后，相应地提取和总结相关数据。前一步的每个步骤都由 3 名独立的审查员进行，通过讨论和有时咨询高级成员来解决冲突。
最终纳入的研究有 18 篇文章，共 34 例（平均年龄=8 岁，男/女=19/15）。报道最多的症状和体征是发热 97.1%、红斑疹 76.5%、关节炎 67.6%、肝肿大 61.8%、紫斑疹 61.8%、四肢脂肪营养不良 53.1%，此外还有体重和身高低。也有报道罕见的特征。实验室检查不具有特异性，这可能是全身炎症反应的结果。皮肤活检的主要特征是血管炎，而许多病例的基底节钙化是突出的表现。
发热、皮肤病变和全身炎症反应是伴有脂肪营养不良和发热综合征的慢性非典型中性粒细胞皮肤病的突出特征。除了病理发现外，临床表现是主要的指导。突变检测是确证性试验。文献中报道的急性发作的最有效治疗方法是泼尼松龙。
