一例红细胞生成性原卟啉病临床分析及FECH基因检测

收集1例红细胞生成性原卟啉病患者的临床资料及外周血，提取患者DNA，对FECH基因进行Sanger测序，与100名正常人进行对比。患者皮损多位于暴露部位，皮损粗糙、增厚，面部皮损呈蜡样光泽，手背部可见密集肤色粟粒大丘疹。患者尿液、粪便和血清Wood灯下呈浅粉色；外周血涂片检查电光源下见大量红细胞，荧光相见大量红细胞的红色荧光；组织病理示表皮角化过度，基底层色素增加，真皮内成纤维细胞增生，局部可见粉色团块状物质，弹力纤维变性；特殊染色：真皮内团块状物质PAS（+）；刚果红（±）。基因检测结果示：FECH基因c.181C>T（p.Q61X）杂合变异和IVS3-48C（T>C）。

Clinical analysis and FECH genetic detection in one patient with erythropoietic protoporphyria

The clinical data of a patient with erythropoietic protoporphyria(EPP)were collected and DNA was extracted from his peripheral blood.The mutation of ferrochelatase(FECH)was detected by Singer sequencing and 100 healthy individuals were enrolled as controls.Most of the lesions were thickening and on the exposure area,while the facial lesions have a waxy sheen and the lesions on the dorsa of the hands were dense skin colour miliary papules.The colour of his serum,feces and urine under the Wood's lamp was light pink.There were a large number of erythrocytes on the blood smear under fluorescence microscope and the red fluorescence was seen with hematofluorometer.Histological examination showed hyperkeratosis of the epidermis and increased pigment in the basal layer,fibroblast proliferation in dermis,pink deposit collagen deposition and elastic fibrodegeneration of the skin.PAS stain of the large clumps in the dermis was positive.The congo red stain was(±).Two mutations in his FECH gene were found,c.181C>T(p.Q61x)and IVS3-48C(T>C).