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Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation [Case Report]

Cantatore-Francis, Julie L; Cohen-Pfeffer, Jessica; Balwani, Manisha; Kahn, Philip; Lazarus, Herbert M; Desnick, Robert J; Schaffer, Julie V
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. OBSERVATIONS: 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. CONCLUSIONS: 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
PMID: 20479301
ISSN: 1538-3652
CID: 110107

Cutaneous anthrax associated with microangiopathic hemolytic anemia and coagulopathy in a 7-month-old infant [Case Report]

Freedman, Abigail; Afonja, Olubunmi; Chang, Mary Wu; Mostashari, Farzad; Blaser, Martin; Perez-Perez, Guillermo; Lazarus, Herb; Schacht, Robert; Guttenberg, Jane; Traister, Michael; Borkowsky, William
A 7-month-old infant with cutaneous anthrax developed severe systemic illness despite early treatment with antibiotics. The infant displayed severe microangiopathic hemolytic anemia with renal involvement, coagulopathy, and hyponatremia. These findings are unusual with cutaneous anthrax, but have been described in illness resulting from spider toxin and may delay correct diagnosis. The systemic manifestations of the disease persisted for nearly a month despite corticosteroid therapy, but resolved
PMID: 11851579
ISSN: 0098-7484
CID: 26017

Images in clinical medicine. Cutaneous anthrax infection [Case Report]

Roche KJ; Chang MW; Lazarus H
PMID: 11704684
ISSN: 0028-4793
CID: 26019

Acute myocardial infarction in pediatric systemic lupus erythematosus [Case Report]

Friedman, D M; Lazarus, H M; Fierman, A H
PMID: 2380828
ISSN: 0022-3476
CID: 101655