Mascaro-Galy C, Mascaro J M, Albero F
Ann Dermatol Venereol. 1977 Jan;104(1):32-7.
A typical case of congenital erythropoietic porphyria in a 8 month old girl is reported (photosensitive blistering syndrome, hypertrichosis; erythrodontia; fluorescence of urine, teeth, erythrocytes and myeloblasts; splenomegaly; anaemia). Porphyrins, isomers I, were present in urine and blood. In faeces a porphyrin-X-like substance migrating as PX was detected; this porphyrin was finally identified as CP I unusually difficult to extract because of the presence of a banding and fluorescence quenching agent probably of exogenous origin. The usual methods are not always able to extract and to identify the faecal porphyrins.
报道了一名8个月大女童先天性红细胞生成性卟啉病的典型病例（光敏性水疱综合征、多毛症；红牙；尿液、牙齿、红细胞和成髓细胞的荧光；脾肿大；贫血）。尿液和血液中存在卟啉异构体I。在粪便中检测到一种类似卟啉-X的物质，其迁移情况与PX相同；这种卟啉最终被鉴定为CP I，由于可能存在外源性的条带化和荧光猝灭剂，所以异常难以提取。常用方法并不总能提取和鉴定粪便中的卟啉。
