迟发性皮肤卟啉症一例

Porphyria cutanea tarda:a case report

患者,男,23岁。面颈部及双手背红斑、水疱、破溃2年,光敏感性和皮肤脆性增加,摩擦后加重。家族中无类似病史。血卟啉阴性;尿卟啉阳性;抗核抗体阴性。通过直接测序的方法对患者UROD基因10个外显子进行测序,未发现有害致病突变。组织病理示表皮下水疱形成,真皮上部血管内及血管壁周围糖蛋白沉积。诊断迟发性皮肤卟啉症,给予羟氯喹200 mg每日两次。

A 23-year-old male presented with photosensitivity and skin fragility as well as erythema,blistering,erosions on sun-exposed sites.The patient has no similar family history.The blood porphyrin test and antinuclear antibody test were negative.The urine porphyrin test was positive.The 10 exons of UROD gene were sequenced by direct sequencing,and no harmful and pathogenic mutations were found.Histopathological examination revealed subepidermal blisters,glycoprotein deposition of perivascular wall in the superficial dermis.The patient was diagnosed with porphyria cutanea tarda and treated with oral hydroxychloroquine 200 mg twice a day.