Department of Dermatology, Mayo Clinic, Rochester, Minnesota 55905, USA.
J Am Acad Dermatol. 2012 Mar;66(3):416-23. doi: 10.1016/j.jaad.2011.01.010. Epub 2011 Jul 27.
Erythromelalgia has not been well characterized in the pediatric population.
We sought to review our experience of erythromelalgia in the pediatric age group.
We conducted a retrospective review of patients 18 years of age and younger with a diagnosis of erythromelalgia who were examined at Mayo Clinic in Rochester, MN, from 1970 to 2007.
The records of 32 patients (girls, 22 [69%]) were evaluated. Mean age was 14.1 years (range, 5-18 years) and mean time to diagnosis was 5.2 years. Seven patients (22%) had a first-degree relative with erythromelalgia; 4 were from the same family. Physical activity was limited because of discomfort in 21 patients (66%) and school attendance was affected in 11 patients (34%). Noninvasive vascular studies, which compared temperature, laser Doppler flow, and transcutaneous oximetry in the toes, identified vascular abnormalities in 13 (93%) of 14 patients. Neurophysiologic studies with autonomic reflex screening (including quantitative sudomotor axon reflex test and thermoregulatory sweat testing) showed evidence of a small-fiber neuropathy involving the skin in 10 (59%) of 17 patients studied; there was no evidence of large-fiber neuropathy in 20 patients in whom electromyographic and nerve conduction studies were performed. Topical lidocaine was the most commonly prescribed treatment (44%). Fifteen patients were monitored for an average of 9.1 years (median, 5.0 years; range, 0.4-23.7 years). At last follow-up, 5 patients had stable disease, 4 showed improvement, two had resolution, one reported worsening of symptoms, and 3 had died (one suicide).
Conclusions are limited because this was a retrospective chart review.
Erythromelalgia in pediatric patients is associated with substantial morbidity and even death. The majority of cases are not inherited. Most patients studied have associated small-fiber neuropathy. The disease course is variable. A reliable and safe treatment has not been determined.
小儿人群中的红斑性肢痛症尚未得到很好的描述。
我们旨在回顾我们在儿科年龄组中红斑性肢痛症的经验。
我们对 1970 年至 2007 年在明尼苏达州罗切斯特市梅奥诊所接受检查的年龄在 18 岁及以下的红斑性肢痛症患者进行了回顾性分析。
评估了 32 名患者（女孩 22 名[69%]）的记录。平均年龄为 14.1 岁（范围 5-18 岁），平均诊断时间为 5.2 年。7 名患者（22%）有一级亲属患有红斑性肢痛症；其中 4 人来自同一个家庭。21 名患者（66%）因不适而限制了体力活动，11 名患者（34%）的学业受到影响。非侵入性血管研究比较了脚趾的温度、激光多普勒血流和经皮血氧测定，发现 14 名患者中有 13 名（93%）存在血管异常。自主反射筛查的神经生理研究（包括定量汗传反射试验和温热性出汗试验）显示，在 17 名接受研究的患者中，有 10 名（59%）存在涉及皮肤的小纤维神经病；在 20 名接受肌电图和神经传导研究的患者中没有大纤维神经病的证据。局部利多卡因是最常开的处方（44%）。15 名患者平均监测 9.1 年（中位数 5.0 年；范围 0.4-23.7 年）。在最后一次随访时，5 名患者病情稳定，4 名患者病情改善，2 名患者病情缓解，1 名患者报告症状恶化，3 名患者死亡（1 例自杀）。
由于这是一项回顾性图表回顾，因此结论受到限制。
儿科患者的红斑性肢痛症与显著的发病率甚至死亡有关。大多数病例不是遗传性的。大多数接受研究的患者都有相关的小纤维神经病。疾病过程是多变的。尚未确定可靠和安全的治疗方法。
