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pubmed:abstractText |
Erythropoietic protoporphyria is considered a rare disease overall, but in children is the most common form of porphyria, and certainly the most common type of erythropoietic porphyria. Despite this fact, erythropoietic protoporphyria is a disease that has been known to evade or at least delay diagnosis, leading to unnecessary suffering by the patient. Given the distress it may cause a patient and his or her family as well as the potential complications of this disease, the importance of maintaining a heightened awareness when presented with a child complaining of photosensitivity cannot be overstated. This case report will review the important clinical indicators, pathogenesis, histology, diagnosis, management, and treatment of this disease, so that affected children will no longer have to play "hide and seek" when diagnosed with this sun-sensitive disease.
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