Erythropoietic porphyria. Definition

Medical Definition: erythropoietic porphyria

Congenital erythropoietic porphyria (CEP) is also known by the name of Günther's disease. It is a very rare disease of autosomal recessive inheritance, which produces an accumulation of porphyria in the erythroblasts and other tissues such as bones and teeth, eliminating the feces and urine. Appears in childhood, bullous eruptions on exposed areas of skin, which can become infected and necrotic. Hypertrichosis is constant and is a reddish discoloration of the teeth.

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