Czarnecki D B
Arch Dermatol. 1980 Mar;116(3):307-11.
In a case of hepatoerythropoietic porphyria (HEP) with unusual features, the patient had onset of photosensitivity in infancy, followed by spontaneous resolution of photosensitivity by the age of 7 years. Seven other cases of HEP have been found in the medical literature; the disease has systemic complications, mainly liver disease and anemia, and is inherited as an autosomal recessive trait. Certain clinical and biochemical features distinguish HEP from erythropoietic porphyria and erythropoietic protoporphyria, the two diseases with which HEP is often confused.
在一例具有不寻常特征的肝红细胞生成性卟啉病(HEP)中,患者在婴儿期出现光敏性,随后在7岁时光敏性自行消退。医学文献中还发现了另外7例HEP病例;该疾病有全身并发症,主要是肝脏疾病和贫血,呈常染色体隐性遗传。某些临床和生化特征可将HEP与常与之混淆的红细胞生成性卟啉病和红细胞生成性原卟啉病区分开来。