Skip to main content
PMC home page
Gut logoLink to Gut
. 1993 Nov;34(11):1632–1634. doi: 10.1136/gut.34.11.1632

Hepatoerythropoietic porphyria precipitated by viral hepatitis.

R J Hift 1, P N Meissner 1, G Todd 1
PMCID: PMC1374437  PMID: 7902313

Abstract

Porphyria cutanea tarda (PCT), the condition resulting from a deficiency of hepatic uroporphyrinogen decarboxylase activity, is the commonest form of porphyria. Both acquired and familial form exist and are commonly associated in adults with liver disease and hepatic iron overload. The condition is extremely rare in children; most cases of childhood PCT are familial and some particularly severe cases have been shown to have a hepatoerythropoietic porphyria or homozygous uroporphyrinogen decarboxylase deficiency. A case is described of hepatoerythropoietic porphyria in which the disease was first precipitated at the age of two by a coincidental hepatitis A infection and improved as the hepatitis cleared. This paper reviews the evidence that viral hepatitis may precipitate overt PCT in children in a manner analogous to the precipitation of PCT in adults by alcohol associated liver disease.

Full text

PDF
1634

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Battle A. M., Stella A. M., De Kaminsky A. R., Kaminsky C., Mariano H. G. Two cases of infantile porphyria cutanea tarda: successful treatment with oral S-adenosyl-L-methionine and low-dose oral chloroquine. Br J Dermatol. 1987 Mar;116(3):407–415. doi: 10.1111/j.1365-2133.1987.tb05856.x. [DOI] [PubMed] [Google Scholar]
  2. Blauvelt A., Harris H. R., Hogan D. J., Jimenez-Acosta F., Ponce I., Pardo R. J. Porphyria cutanea tarda and human immunodeficiency virus infection. Int J Dermatol. 1992 Jul;31(7):474–479. doi: 10.1111/j.1365-4362.1992.tb02693.x. [DOI] [PubMed] [Google Scholar]
  3. Boisseau A. M., Couzigou P., Forestier J. F., Legrain V., Aubertin J., Doutre M. S., Maleville J., Geniaux M., Beylot C. Porphyria cutanea tarda associated with human immunodeficiency virus infection. A study of four cases and review of the literature. Dermatologica. 1991;182(3):155–159. doi: 10.1159/000247768. [DOI] [PubMed] [Google Scholar]
  4. Bundino S., Topi G. C., Zina A. M., D'Allessandro Gandolfo L. Hepatoerythropoietic porphyria. Pediatr Dermatol. 1987 Nov;4(3):229–233. doi: 10.1111/j.1525-1470.1987.tb00784.x. [DOI] [PubMed] [Google Scholar]
  5. Cotton J. B., Abeille A., Jeune R., Ladreyt-Ponchon J. P., Grenier J. L. Porphyrie cutanée "tardive" chez une enfant de 4 ans avec déficit en uroporphyrinogène décarboxylase. Pediatrie. 1986 Dec;41(8):617–627. [PubMed] [Google Scholar]
  6. Cruces Prado M. J., Enriquez de Salamanca R., Verea Hernando M., Peña Payero M. L., Catalán Beltran T., Robledo Aguilar A. Two cases in infantile and familial porphyria cutanea tarda. Dermatologica. 1980;161(3):205–210. doi: 10.1159/000250359. [DOI] [PubMed] [Google Scholar]
  7. Day R. S., Pimstone N. R., Eales L. The diagnostic value of blood plasma porphyrin methyl ester profiles produced by quantitative TLC. Int J Biochem. 1978;9(12):897–904. doi: 10.1016/0020-711x(78)90067-8. [DOI] [PubMed] [Google Scholar]
  8. Day R. S., Strauss P. C. Severe cutaneous porphyria in a 12-year-old boy: hepatoerythropoietic or symptomatic porphyria? Arch Dermatol. 1982 Sep;118(9):663–667. [PubMed] [Google Scholar]
  9. Day R. S., de Salamanca R. E., Eales L. Quantitation of red cell porphyrins by fluorescence scanning after thin-layer chromatography. Clin Chim Acta. 1978 Oct 2;89(1):25–33. doi: 10.1016/0009-8981(78)90358-3. [DOI] [PubMed] [Google Scholar]
  10. Dopfer R., Doss M., Ehninger G., Ostendorf P., Niethammer D. Appearance of an inherited porphyria cutanea tarda in a child after allogeneic bone marrow transplantation for chronic myelogenous leukaemia. Bone Marrow Transplant. 1986 May;1(1):95–99. [PubMed] [Google Scholar]
  11. Doutre M. S., Beylot C., Bioulac P., Nordmann Y. Porphyrie cutanée dite tardive de l'enfant. A propos d'um cas avec étude enzymatique familiale. Ann Dermatol Venereol. 1981;108(10):751–757. [PubMed] [Google Scholar]
  12. Elder G. H., Roberts A. G., de Salamanca R. E. Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects. Clin Biochem. 1989 Jun;22(3):163–168. doi: 10.1016/s0009-9120(89)80072-4. [DOI] [PubMed] [Google Scholar]
  13. Elder G. H., Urquhart A. J., De Salamanca R. E., Munoz J. J., Bonkovsky H. L. Immunoreactive uroporphyrinogen decarboxylase in the liver in porphyria cutanea tarda. Lancet. 1985 Aug 3;2(8449):229–233. doi: 10.1016/s0140-6736(85)90287-9. [DOI] [PubMed] [Google Scholar]
  14. Gocmen A., Peters H. A., Cripps D. J., Bryan G. T., Morris C. R. Hexachlorobenzene episode in Turkey. Biomed Environ Sci. 1989 Mar;2(1):36–43. [PubMed] [Google Scholar]
  15. Herrero C., Muniesa A. M., Lecha M., Elder G. H., Mascaro J. M. Les formes précoces de porphyrie cutanée tardive. A propos de deux observations avec étude du déficit enzymatique de la famille et précision du mode de transmission génétique. Ann Dermatol Venereol. 1984;111(11):973–978. [PubMed] [Google Scholar]
  16. Kansky A. Porphyria cutanea tarda in a 2-year-old girl. Br J Dermatol. 1974 Feb;90(2):213–216. doi: 10.1111/j.1365-2133.1974.tb06388.x. [DOI] [PubMed] [Google Scholar]
  17. Kushner J. P., Barbuto A. J., Lee G. R. An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity. J Clin Invest. 1976 Nov;58(5):1089–1097. doi: 10.1172/JCI108560. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Lambert D. G., Beer F., Dalac S., Hourdain M. J. Familial porphyria cutanea tarda in a 7-year-old girl. Dermatologica. 1988;176(4):202–204. doi: 10.1159/000248704. [DOI] [PubMed] [Google Scholar]
  19. Lazaro P., de Salamanca R. E., Elder G. H., Villaseca M. L., Chinarro S., Jaqueti G. Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family. Br J Dermatol. 1984 May;110(5):613–617. doi: 10.1111/j.1365-2133.1984.tb04687.x. [DOI] [PubMed] [Google Scholar]
  20. Lim H. W., Poh-Fitzpatrick M. B. Hepatoerythropoietic porphyria: a variant of childhood-onset porphyria cutanea tarda. Porphyrin profiles and enzymatic studies of two cases in a family. J Am Acad Dermatol. 1984 Dec;11(6):1103–1111. doi: 10.1016/s0190-9622(84)70267-2. [DOI] [PubMed] [Google Scholar]
  21. Mariani R., de Verneuil H., Albertini M., Lambert J. M., Kermarec J. Porphyrie cutanée dite tardive chez un trisomique 21. Arch Fr Pediatr. 1981 Jan;38(1):51–54. [PubMed] [Google Scholar]
  22. Rogers M., Kamath K. R., Poulos V. Porphyria cutanea tarda in a seven year old child. Australas J Dermatol. 1984 Dec;25(3):107–112. doi: 10.1111/j.1440-0960.1984.tb00824.x. [DOI] [PubMed] [Google Scholar]
  23. Romana M., Grandchamp B., Dubart A., Amselem S., Chabret C., Nordmann Y., Goossens M., Romeo P. H. Identification of a new mutation responsible for hepatoerythropoietic porphyria. Eur J Clin Invest. 1991 Apr;21(2):225–229. doi: 10.1111/j.1365-2362.1991.tb01814.x. [DOI] [PubMed] [Google Scholar]
  24. Tamayo L., Ruiz-Maldonado R., Ridaura C. Porphyria cutanea tarda symptomatica in children treated with chloroquine. Report of four cases with control liver biopsies. J Dermatol. 1985 Aug;12(4):329–340. doi: 10.1111/j.1346-8138.1985.tb02850.x. [DOI] [PubMed] [Google Scholar]
  25. Taylor G. F., Carter N. G. An unusual porphyrinuria precipitated by viraemia. Australas J Dermatol. 1984 Dec;25(3):113–114. doi: 10.1111/j.1440-0960.1984.tb00825.x. [DOI] [PubMed] [Google Scholar]
  26. Thibault P., Robin L. A., Magard H., Second L. Méningite foudroyante à Pasteurella haemolytica variété ureae. Presse Med. 1967 Feb 11;75(7):345–346. [PubMed] [Google Scholar]
  27. Toback A. C., Sassa S., Poh-Fitzpatrick M. B., Schechter J., Zaider E., Harber L. C., Kappas A. Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. N Engl J Med. 1987 Mar 12;316(11):645–650. doi: 10.1056/NEJM198703123161101. [DOI] [PubMed] [Google Scholar]
  28. Welland F. H., Carlsen R. A. Porphyria cutanea tarda in an 8-year-old boy. Arch Dermatol. 1969 Apr;99(4):451–454. [PubMed] [Google Scholar]
  29. de Verneuil H., Beaumont C., Deybach J. C., Nordmann Y., Sfar Z., Kastally R. Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria. Am J Hum Genet. 1984 May;36(3):613–622. [PMC free article] [PubMed] [Google Scholar]
  30. de Verneuil H., Bourgeois F., de Rooij F., Siersema P. D., Wilson J. H., Grandchamp B., Nordmann Y. Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. Hum Genet. 1992 Jul;89(5):548–552. doi: 10.1007/BF00219182. [DOI] [PubMed] [Google Scholar]

Articles from Gut are provided here courtesy of BMJ Publishing Group

RESOURCES