hepatoerythropoietic porphyria
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Introduction
Probably homozygous form of familial porphyria cutanea tarda
Epidemiology
rare
Genetics
- autosomal recessive
- associated with defects in UROD
Clinical manifestations
- severe form of cutaneous porphyria
- presents in infancy
Laboratory
- erythrocyte uroporphyrinogen decarboxylase (UROD) is very low
- UROD is also low in cultured skin fibroblasts