并发下肢巨大溃疡的原发性红斑性肢痛病及家系调查

A case of primary erythromelalgia with severe ulcers and a survey of family history

报告1例并发巨大溃疡的原发性红斑性肢痛病并对其家系进行调查。患者男,22岁。7年前开始出现双下肢红斑,伴烧灼样疼痛,运动或局部温度升高时症状明显,赤足接触地板、吹风扇或凉水浸泡后可缓解,1年前患者因使用冰水长时间浸泡后出现双下肢肿胀和巨大溃疡。患者家族中先后有25人出现类似疾病。结合其临床发病特点和家族史,诊断为原发性红斑性肢痛病,予以对症支持治疗后患者病情好转。

A case of primary erythromelalgia with severe ulcers is reported.A 22-year-old man presented with recurrent erythema with burning pain on the lower extremities for more than 7 years.Exercise or raising skin local temperature worsened the symptoms while touching floor with bear feet,air blow or cold water alleviated the symptoms.One year ago,both low legs became swollen with ulcers because of long term submergence in ice water.His family history revealed 25 family members with similar symptoms.According to his clinical features and family history,he was diagnosed with primary erythromelalgia.His symptoms were improved after symptomatic treatment.