Dermatol Clin 2014 Jul 5;32(3):369-84, ix. Epub 2014 May 5.
Department of Medical Biochemistry and Immunology, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK; Institute of Molecular and Experimental Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales CF14 4XN, UK.
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. Read More