The Cutaneous Porphyrias - 01/06/14

Doi : 10.1016/j.det.2014.03.001

Danja Schulenburg-Brand, MBChB, MMed (Chem Path) ^a,^⁎ , Ruwani Katugampola, BM, MRCP, MD ^b, Alexander V. Anstey, MD, FRCP ^c,^d, Michael N. Badminton, BSc, MBChB, PhD, FRCPath ^a,^e
^a Department of Medical Biochemistry and Immunology, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK
^b Department of Dermatology, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK
^c Department of Dermatology, Royal Gwent Hospital, Cardiff Road, Newport NP20 2UB, UK
^d Institute of Medical Education, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales CF14 4XN, UK
^e Institute of Molecular and Experimental Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales CF14 4XN, UK

^∗Corresponding author.

Resumen

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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Keywords : Cutaneous porphyria, Erythropoietic protoporphyria, Porphyria cutanea tarda, Variegate porphyria, Congenital erythropoietic porphyria, Hereditary coproporphyria