Porphyria in childhood

Semin Dermatol. 1995 Mar;14(1):33-9. doi: 10.1016/s1085-5629(05)80037-9.


Porphyria in childhood is an uncommon problem but the recognition of these disorders is vitally important for affected children. Of the cutaneous porphyrias, erythropoietic protoporphyria, congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and the hereditary form of porphyria cutanea tarda (PCT) can present in infancy or childhood. This article focuses on the porphyrias that present in infants and children along with a brief discussion of pathogenesis, cutaneous histopathology, and genetics of these metabolic disorders.

Publication types

  • Review

MeSH terms

  • Adult
  • Child
  • Heme / biosynthesis
  • Humans
  • Infant
  • Porphyria Cutanea Tarda / diagnosis
  • Porphyria Cutanea Tarda / genetics
  • Porphyria Cutanea Tarda / therapy
  • Porphyria, Erythropoietic / diagnosis
  • Porphyria, Erythropoietic / therapy
  • Porphyria, Hepatoerythropoietic / diagnosis
  • Porphyria, Hepatoerythropoietic / therapy
  • Porphyrias* / etiology
  • Porphyrias* / genetics
  • Porphyrias* / metabolism
  • Porphyrias* / pathology


  • Heme