Congenital erythropoietic porphyria

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration.


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PMID (PMCID)
23612387
MALE Infant
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options.
Pandey M, Mukherjee SB, Patra B, Kapoor S, Ged C, Aneja S, Seth A.
J Pediatr Hematol Oncol. 2013;35(4):e167-70.
Anemia, erythrodontia, hepatosplenomegaly, and massive urinary elimination of predominantly type I porphyrins was suggestive of congenital erythropoietic porphyria.