CUTANEOUS PORPHYRIAS IN PEDIATRICS
Abstract
The porphyrias are a group of rare metabolic disorders that result mostly from a genetically determined dysfunction of specific enzymes involved in the heme biosynthetic pathway. Clinical presentation is highly variable, as well as its severity and prognosis. The photosensitivity defines the cutaneous porphyrias. Differential diagnosis can be difficult due to uncharacteristic clinical symptoms and overlapping laboratory findings. The treatment is still controversial, although sun avoidance is essential. In this article, we intend to conduct a theoretical review of the porphyrias with cutaneous manifestations in children, emphasizing the diagnosis and treatment of each subtype.
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