Hepatoerythropoietic Porphyria Misdiagnosed as Child Abuse: Cutaneous Arthritic and Hematologic Manifestations in Siblings with a Novel UROD Mutation

摘要

BackgroundHepatoerythropoietic porphyria (HEP) is a rare autosomal recessive disorder resulting from the markedly deficient, but not absent, activity of the heme biosynthetic enzyme, uroporphyrinogen decarboxylase (UROD). HEP typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine.