Evidence Levels: A Double-blind study B Clinical trial ≥ 20 subjects C Clinical trial < 20 subjects D Series ≥ 5 subjects E Anecdotal case reports From Lebwohl MG. Atlas of the Skin and Systemic Disease. Churchill Livingstone: Elsevier, 1995.…
Evidence Levels: A Double-blind study B Clinical trial ≥ 20 subjects C Clinical trial < 20 subjects D Series ≥ 5 subjects E Anecdotal case reports Open full size image In this metabolic disorder, a genetically determined ferrochelatase enzyme deficiency…
Key Points Several porphyrias share similar photocutaneous features; sufficient testing to assure correct diagnosis must precede selection of therapies. Most porphyrias can be correctly diagnosed biochemically. Mutation analysis is the gold standard for porphyria diagnosis and family counseling. Clinical and…