AI Article Synopsis
- The porphyrias are inherited disorders affecting heme production, leading to the buildup of porphyrins, which can cause skin sensitivity or severe neurovisceral episodes.
- These disorders manifest in two primary ways: through skin conditions like fragile skin or sensitivity to light and through acute attacks that affect the nervous system.
- The article reviews the various aspects of porphyria, including how common they are, their causes, symptoms, lab diagnosis, potential complications, and treatment strategies, with a focus on dermatological insights.
Article Abstract
The porphyrias are a group of mainly inherited disorders of heme biosynthesis where accumulation of porphyrins and/or porphyrin precursors gives rise to 2 types of clinical presentation: cutaneous photosensitivity and/or acute neurovisceral attacks. The cutaneous porphyrias present with either bullous skin fragility or nonbullous acute photosensitivity. This review discusses the epidemiology, pathogenesis, clinical presentation, laboratory diagnosis, complications, and current approach to porphyria management. Although focusing mainly on their dermatological aspects, the article also covers the management of acute porphyria, which by virtue of its association with variegate porphyria and hereditary coproporphyria, may become the responsibility of the clinical dermatologist.
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| http://dx.doi.org/10.1016/j.det.2014.03.001 | DOI Listing |
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