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Special Feature
July 7, 2008

Picture of the Month—Diagnosis

Author Affiliations
 

SAMIR S.SHAHMDALBERT C.YANMD

Arch Pediatr Adolesc Med. 2008;162(7):690. doi:10.1001/archpedi.162.7.690

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 for the antinuclear antibody. At 10 weeks of age, the infant's whole-blood porphyrin level demonstrated a persistent elevation in protoporphyrin levels, and a diagnosis of erythropoietic protoporphyria (EPP) was made. Elevations in maternal protoporphyrin levels were subsequently confirmed.

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