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


METHODS
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.
Cantatore-Francis
Julie L
JL
Department of Dermatology, New York University School of Medicine, 560 First Ave, Room H-100, New York, NY 10016, USA.
Cohen-Pfeffer
Jessica
J
Balwani
Manisha
M
Kahn
Philip
P
Lazarus
Herbert M
HM
Desnick
Robert J
RJ
Schaffer
Julie V
JV
D002648:Child; D002649:Child Abuse / Q000175:diagnosis*; D003951:Diagnostic Errors; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D016254:Mutagenesis, Insertional; D020125:Mutation, Missense; D010641:Phenotype; D017121:Porphyria, Hepatoerythropoietic / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D017422:Sequence Analysis, DNA; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics
D014575:Uroporphyrinogen Decarboxylase