Piotte M, Hassoun A, Bourlond A, Cornu G
Department of Paediatrics, Catholic University of Louvain, Brussels, Belgium.
Eur J Pediatr. 1989 Apr;148(6):507-9. doi: 10.1007/BF00441543.
Erythropoietic protoporphyria (EPP), a recently described form of porphyria, often remains unrecognized. We report the case of a 7-year-old girl admitted for investigation of photosensitivity since the age of 18 months without any significant objective cutaneous lesions. Clinical features, quantitative determinations of porphyrins in blood, urine and stools, ferrochelatase activity and cutaneous histopathology helped to confirm the diagnosis of EPP. A familial study was also performed. The clinical, laboratory and genetic characteristics of EPP are reviewed.
红细胞生成性原卟啉病（EPP）是一种最近才被描述的卟啉病形式，常常未被识别。我们报告了一例7岁女孩的病例，该女孩自18个月大起因光敏性接受检查，皮肤无明显客观病变。临床特征、血液、尿液和粪便中卟啉的定量测定、亚铁螯合酶活性以及皮肤组织病理学检查有助于确诊EPP。我们还进行了家族研究。本文对EPP的临床、实验室和遗传学特征进行了综述。
