Skip to main content
SpringerLink
Log in

Porphyrias

  • Living reference work entry
  • First Online:
Braun-Falco´s Dermatology

  • 24 Accesses

Abstract

The porphyrias are a clinically, biochemically, and genetically heterogeneous group of metabolic diseases. They result from a predominantly hereditary, rarely acquired dysfunction of one of the eight enzymes along the heme biosynthetic pathway. Although the majority of the different variants of porphyria manifest with cutaneous symptoms, other forms exclusively show acute, potentially life-threatening neurovisceral porphyria attacks. In all porphyrias, inner organ complications can occur, mainly in the liver and kidneys. Therefore, affected patients should be cared for interdisciplinarily, if possible. This article provides an up-to-date overview of the clinic, diagnostics, and therapy of the various forms of porphyria.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Bickers DR, Frank J (2012) The porphyrias. In: Wolff K, Goldsmit LA, Katz SI et al (eds) Fitzpatrick’s dermatology in general medicine, 8th edn. McGraw-Hill, New York, pp 1538–1573

    Google Scholar 

  • Biolcati G, Marchesini E, Sorge F et al (2015) Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. Br J Dermatol 172:1601–1612

    Article  CAS  Google Scholar 

  • Fontanellas A, Ávila MA, Berraondo (2016) Emerging therapies for acute intermittent porphyria. Expert Rev Mol Med 18:e17. 1–13

    Article  Google Scholar 

  • Frank J, Poblete-Gutiérrez P (2010) Porphyria cutanea tarda – when skin meets liver. Best Pract Res Clin Gastroenterol 24:735–745

    Article  CAS  Google Scholar 

  • Gouya L, Puy H, Robreau AM et al (2002) The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet 30:27–28

    Article  CAS  Google Scholar 

  • Hift RJ, Thunell S, Brun A (2011) Drugs in porphyria: from observation to a modern algorithm-based system for the prediction of porphyrogenicity. Pharmacol Ther 132:158–169

    Article  CAS  Google Scholar 

  • Holme SA, Whatley SD, Roberts AG et al (2009) Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. J Invest Dermatol 129:599–605

    Article  CAS  Google Scholar 

  • James MF, Hift RJ (2000) Porphyrias. Br J Anaesth 85:143–153

    Article  CAS  Google Scholar 

  • Karim Z, Lyoumi S, Nicolas G et al (2015) Porphyrias: a 2015 update. Clin Res Hepatol Gastroenterol 39:412–425

    Article  CAS  Google Scholar 

  • Kunitz O, Frank J (2001) Anästhesiologisches Management bei Patienten mit akuten Porphyrien. Anaesthesist 50:957–969

    Article  CAS  Google Scholar 

  • Langendonk JG, Balwani M, Anderson KE et al (2015) Afamelanotide for erythropoietic protoporphyria. N Engl J Med 373:48–59

    Article  CAS  Google Scholar 

  • Ramanujam VM, Anderson KE (2015) Porphyria diagnostics-Part 1: a brief overview of the porphyrias. Curr Protoc Hum Genet 86:17.20.1–17.20.26

    Google Scholar 

  • van Serooskerken AM, Poblete-Gutiérrez P, Frank J (2010) The porphyrias: clinic, diagnostics, novel investigative tools and evolving molecular therapeutic strategies. Skin Pharmacol Physiol 23:18–28

    Article  Google Scholar 

  • Whatley SD, Badminton MN (2013) Role of genetic testing in the management of patients with inherited porphyria and their families. Ann Clin Biochem 50:204–216

    Article  CAS  Google Scholar 

First Describer

  • Barnes HD (1945) A note on porphyrinuria with a resumé of eleven South African cases. Clin Proc 4:269–287

    Google Scholar 

  • Doss M, by Tiepermann R, Schneider J et al (1979) New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. Klin Wochenschr 57:1123–1127

    Article  CAS  Google Scholar 

  • Günther H (1911) Die Hämatoporphyrie. Dtsch Arch Klin Med 105:89–146

    Google Scholar 

  • Ippen H (1977) Treatment of porphyria cutanea tarda by phlebotomy. Semin Hematol 14:253–259

    CAS  PubMed  Google Scholar 

  • Kosenow W, Treibs A (1953) Lichtüberempfindlichkeit und Porphyrinämie. Z Kinderkrankh 73:82–92

    Article  CAS  Google Scholar 

  • Magnus IA, Jarrett A, Pankered TAJ et al (1961) Erythropoietic protoporphyria: a new porphyria syndrome with solar urticaria due to protoporphyrinemia. Lancet 2:448–451

    Article  CAS  Google Scholar 

  • Pinol Aquade J, Herrero C, Almeida J et al (1969) A case of biochemically unclassifiable hepatic porphyria. Br J Dermatol 81:270–275

    Article  Google Scholar 

  • Poh-Fitzpatrick MB (1980) A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol 116:543–547

    Article  CAS  Google Scholar 

  • Simon N, Kocsis GY, Nagy GY et al (1967) Über das familiäre Vorkommen der Porphyria cutanea. Wissenschaftlicher Vortrag auf der Sitzung der Hamburger Dermatologischen Gesellschaft im Gedenken an Alfred Marchionini. 21. Mai 1966. Hamburg. Dermatol Wochenschr 153:452

    Google Scholar 

  • Waldenström J (1937) Studien über Porphyrie. Acta Medica Scand Suppl 82:84–90

    Google Scholar 

  • Watson CJ, Schwartz S, Schultze W et al (1949) Studies of coporphyrin III: idiopathic coporphyrinuria, a hitherto unrecognized form characterized by lack of symptoms in spite of the excretion of large amounts of coporphyrin. J Clin Invest 28:465–482

    Article  CAS  Google Scholar 

  • Whatley SD, Ducamp S, Gouya L et al (2008) C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 83:408–414

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany

    Jorge Frank

Authors
  1. Jorge Frank
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jorge Frank .

Editor information

Editors and Affiliations

  1. Department of Dermatology, University of Munich, Munich, Germany

    Gerd Plewig

  2. Department of Dermatology, University of Munich, Munich, Germany

    Lars French

  3. Department of Dermatology, University of Munich, Munich, Germany

    Thomas Ruzicka

  4. Department of Dermatology, Venerology and Allergology, Frankfurt University Hospital, Frankfurt, Germany

    Roland Kaufmann

  5. Clinic for Dermatology and Allergology, University of Marburg, Marburg, Germany

    Michael Hertl

Section Editor information

  1. Head of the Department of Dermatology, Venerology and Allergology, Frankfurt University Hospital, Frankfurt am Main, Germany

    Roland Kaufmann

Rights and permissions

Reprints and permissions

Copyright information

© 2021 Springer-Verlag GmbH Germany, part of Springer Nature

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Frank, J. (2021). Porphyrias. In: Plewig, G., French, L., Ruzicka, T., Kaufmann, R., Hertl, M. (eds) Braun-Falco´s Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-58713-3_94-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-58713-3_94-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-58713-3

  • Online ISBN: 978-3-662-58713-3

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation