Fritsch C, Lang K, Bolsen K, Lehmann P, Ruzicka T
Departmentof Dermatology, Heinrich Heine University, Düsseldorf, Germany.
Skin Pharmacol Appl Skin Physiol. 1998 Nov-Dec;11(6):347-57. doi: 10.1159/000029857.
Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP.
先天性红细胞生成性卟啉病（CEP）是卟啉代谢中最罕见的常染色体隐性疾病之一，由尿卟啉原III同合酶纯合缺陷引起。所有细胞和组织中都积聚了大量的尿卟啉I，这表现为红细胞卟啉浓度增加以及尿液和粪便中大量卟啉的排泄。尿卟啉的皮肤沉积常常引发严重的光毒性氧依赖性皮肤损伤，并伴有广泛溃疡和毁容。脾肿大和溶血性贫血是典型的内部症状。骨骼变化如骨质溶解和钙化很常见。到目前为止，已发表了130例CEP病例。脾切除术和红细胞输血显示出一定的有益效果。3例患者接受了骨髓移植，1例接受了干细胞移植。最佳治疗方法是避免阳光照射。我们报告了我们最近的CEP病例。
