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

Department of Dermatology, New York University School of Medicine, 560 First Ave, Room H-100, New York, NY 10016, USA.
Archives of dermatology (Impact Factor: 4.79). 05/2010; 146(5):529-33. DOI: 10.1001/archdermatol.2010.89
Source: PubMed


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.
Three siblings, offspring of parents of Puerto Rican and Dominican descent, had with excessive scarring on the face and dorsal aspect of the forearms, which initially led to the erroneous suspicion of child abuse. Although these lesions were photodistributed, overt photosensitivity had not been observed, with the exception of a single episode of blistering and onycholysis after intense sun exposure in 1 affected child. Mild facial hypertrichosis, chronic anemia, polyarticular arthritis, and developmental delay represented additional findings. Biochemical studies of urine, plasma, and erythrocyte porphyrins from the affected siblings established the diagnosis of HEP. Sequencing of the UROD gene revealed compound heterozygosity for a novel missense mutation, V166A, and a complex deletion/insertion, 645del1053ins10.
Our report expands the phenotypic and genotypic spectrum of HEP, highlighting mild cutaneous presentations that can occur without obvious photosensitivity and masquerade as child abuse.

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Available from: Jessica Cohen-Pfeffer, Dec 19, 2013
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    ABSTRACT: In the medical literature, many case histories and review articles have been written about the misinterpretation of skin findings as child abuse; these may concern normal variants, typical dermatological disorders, or artifacts (traditional medicine, pediatric condition falsification, or postmortem changes) (Nong The Anh 1976; Yeatman et al. 1976; Waskerwitz et al. 1981; Oates 1984; Kirschner and Stein 1985; Wheeler and Hobbs 1988; Oranje and Bilo 2011). © 2013 Springer-Verlag Berlin Heidelberg. All rights are reserved.
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