Hepatoerythropoietic Porphyria Misdiagnosed as Child Abuse | Zendy

Julie L. CantatoreFrancis | Zendy; Jessica CohenPfeffer | Zendy; Manisha Balwani | Zendy; Philip Kahn | Zendy; Herbert M. Lazarus | Zendy; Robert J. Desnick | Zendy; Julie V. Schaffer | Zendy

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Hepatoerythropoietic Porphyria Misdiagnosed as Child Abuse

Author(s) -

Julie L. CantatoreFrancis,

Jessica CohenPfeffer,

Manisha Balwani,

Philip Kahn,

Herbert M. Lazarus,

Robert J. Desnick,

Julie V. Schaffer

Publication year - 2010

Publication title -

archives of dermatology

Language(s) - English

Resource type - Journals

eISSN - 1538-3652

pISSN - 0003-987X

DOI - 10.1001/archdermatol.2010.89

Subject(s) - medicine , hypertrichosis , compound heterozygosity , porphyria , dermatology , missense mutation , genetics , phenotype , gene , biology

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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