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Congenital erythropoietic porphyria

Congenital erythropoietic porphyria
#00017943
Author: Manisha Balwani and Robert J. Desnick
Category: Red Cell: Disorders of Iron Metabolism and Heme Synthesis > Poryphyrias
Published Date: 04/17/2013

(A) A severely affected CEP patient who has had multiple sun-induced skin lesions. The cutaneous bullae and vesicles burst and became secondarily infected, leading to bone involvement and resultant loss of facial features and digits. (B) Note his brownish discolored teeth, which fluoresce (erythrodontia) when exposed to ultraviolet light. The erythrodontia is the result of the accumulation of uroporphyrin I and coproporphyrin I in his teeth. (C) Urine from a CEP patient that fluoresces red under ultraviolet light (left) and from a healthy person (right).