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Arch Pediatr Adolesc Med. 2008;162(7):690.

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Denouement and Comment: Erythropoietic Protoporphyria

In this case, the key to diagnosis was the localization of the rash in phototherapy-exposed areas. The differential diagnosis of photosensitivity in the newborn includes a wide range of disorders including those related to DNA-repair syndromes (xeroderma pigmentosum, Rothmund-Thomson syndrome, Bloom syndrome, and Cockayne syndrome), transplacentally transferred collagen vascular disorders (neonatal lupus erythematosus and drug-induced lupus erythematosus), and the porphyrias.

In this case, the purpuric nature of the photodistributed skin findings suggested a porphyrin-related mechanism. While transient erythroporphyria of the newborn and transfusion-associated photosensitivity may present with similar findings, these tend to occur in the context of exchange transfusions, which did not occur in this case. Laboratory data obtained on day 6 of the infant's life revealed an elevated protoporphyrin level of 1089 µg/dL (normal, 16-60 µg/dL [to convert to micromoles per liter, multiply by 0.0178]). The patient also had normal serum levels of iron and hemoglobin and was negative . . . [Full Text of this Article]

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Arch Pediatr Adolesc Med. 2008;162(7):689.
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