The Porphyrias

J Dtsch Dermatol Ges. 2022 Mar;20(3):316-331. doi: 10.1111/ddg.14743.


The porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic disorders and cover in detail the most common form of porphyria worldwide (porphyria cutanea tarda), the most frequent childhood porphyria (erythropoietic protoporphyria), and the most common neurocutaneous porphyria (variegate porphyria).

Publication types

  • Review

MeSH terms

  • Child
  • Diagnosis, Differential
  • Humans
  • Porphyria Cutanea Tarda* / diagnosis
  • Porphyria Cutanea Tarda* / therapy
  • Porphyria, Variegate* / diagnosis
  • Porphyria, Variegate* / therapy
  • Porphyrias* / classification
  • Porphyrias* / diagnosis
  • Porphyrias* / therapy