Abstract | BACKGROUND: 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.
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Authors | Julie L Cantatore-Francis, Jessica Cohen-Pfeffer, Manisha Balwani, Philip Kahn, Herbert M Lazarus, Robert J Desnick, Julie V Schaffer |
Journal | Archives of dermatology
(Arch Dermatol)
Vol. 146
Issue 5
Pg. 529-33
(May 2010)
ISSN: 1538-3652 [Electronic] United States |
PMID | 20479301
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- Uroporphyrinogen Decarboxylase
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Topics |
- Child
- Child Abuse
(diagnosis)
- Diagnostic Errors
- Female
- Gene Deletion
- Genotype
- Humans
- Mutagenesis, Insertional
- Mutation, Missense
- Phenotype
- Porphyria, Hepatoerythropoietic
(diagnosis, genetics, physiopathology)
- Sequence Analysis, DNA
- Uroporphyrinogen Decarboxylase
(genetics)
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