Gunther's congenital erythropoietic porphyria in an 8-month old girl
Mascaro-Galy, C.; Mascaro, J.M.; Albero, F.
Annales de Dermatologie et de Venereologie 104(1): 32-37
1977
ISSN/ISBN: 0151-9638 PMID: 843024 Document Number: 120836
A typical case of congenital erythropoietic porphyria in a 8 mo. old girl was reported (photosensitive blistering syndrome, hypertrichosis; erythrodontia; fluorescence of urine, teeth, erythrocytes and myeloblasts; splenomegaly; anemia). Porphyrins, isomers I, were present in urine and blood. In feces a porphyrin-X(Px)-like substance migrating as PX was detected; this porphyrin was finally identified as CP I [coproporphyrin I] unusually difficult to extract because of the presence of a banding and fluorescence quenching agent probably of exogenous origin. The usual methods were not always able to extract and identify fecal porphyrins.