Escudier A, Mauvais F-X, Bastard P, Boussard C, Jaoui A, Koskas V, Lecoq E, Michel A, Orcel M-C, Truelle P-E, Wohrer D, Piram M
Université de médecine Paris-Descartes, 12, rue de l'École-de-Médecine, 75006 Paris, France.
Université de médecine Paris-Descartes, 12, rue de l'École-de-Médecine, 75006 Paris, France.
Arch Pediatr. 2018 Feb;25(2):150-162. doi: 10.1016/j.arcped.2017.12.001. Epub 2018 Feb 1.
Auto-inflammatory diseases are characterized by unexplained and recurrent attacks of systemic inflammation often involving the skin, joints, or serosal membranes. They are due to a dysfunction or dysregulation of the innate immunity, which is the first line of defense against pathogens. Early recognition of these diseases by the clinician, especially by pediatricians encountering such pathologies in pediatric patients, is primordial to avoid complications. Skin manifestations, common in most auto-inflammatory diseases, are helpful for prompt diagnosis. After a brief physiopathological review, we will describe auto-inflammatory recurrent fevers by their main dermatological presentations: urticarial lesions, neutrophilic dermatoses, panniculitis, other maculopapular eruptions, dyskeratosis, skin vasculitis, and oral aphthous. We finally suggest a decision tree to help clinicians better target genetic exams in patients with recurrent fevers and dermatological manifestations.
自身炎症性疾病的特征是不明原因的全身性炎症反复发作，常累及皮肤、关节或浆膜。它们是由于固有免疫功能障碍或失调所致，固有免疫是抵御病原体的第一道防线。临床医生，尤其是在儿科患者中遇到此类病症的儿科医生，尽早识别这些疾病对于避免并发症至关重要。皮肤表现常见于大多数自身炎症性疾病，有助于快速诊断。在进行简短的生理病理学回顾后，我们将根据主要的皮肤病学表现来描述自身炎症性复发性发热：荨麻疹样皮损、嗜中性皮病、脂膜炎、其他斑丘疹性皮疹、角化异常、皮肤血管炎和口腔阿弗他溃疡。我们最后提出一个决策树，以帮助临床医生更好地针对有复发性发热和皮肤病学表现的患者进行基因检测。
