The cutaneous porphyrias

Dermatol Clin. 2014 Jul;32(3):369-84, ix. doi: 10.1016/j.det.2014.03.001. Epub 2014 May 5.


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.

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

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Porphyrias* / diagnosis
  • Porphyrias* / metabolism
  • Porphyrias* / prevention & control
  • Porphyrins / metabolism*
  • Protective Clothing
  • Skin / metabolism*
  • Skin Diseases* / diagnosis
  • Skin Diseases* / metabolism
  • Skin Diseases* / prevention & control
  • Sunlight / adverse effects*
  • Sunscreening Agents / therapeutic use*


  • Porphyrins
  • Sunscreening Agents