Article
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
Archives of dermatology - 1 May 2010
Cantatore-Francis Julie L, Cohen-Pfeffer Jessica, Balwani Manisha, Kahn Philip, Lazarus Herbert M, Desnick Robert J, Schaffer Julie V
Abstract excerpt
BACKGROUND: Hepatoerythropoietic 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). The disorder typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine....
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