Skip to main content
PMC home page
Gut logoLink to Gut
. 1973 Dec;14(12):934–938. doi: 10.1136/gut.14.12.934

`Erythropoietic' protoporphyria and cirrhosis in sisters

R P H Thompson, E A Molland, D C Nicholson, C H Gray
PMCID: PMC1412859  PMID: 4785283

Abstract

The clinical and histopathological features of two sisters with erythropoietic protoporphyria and liver disease are described. They had unusually severe photosensitivity with blistering, and both died at the age of 31 from cirrhosis. The association of erythropoietic protoporphyria with several hepatic abnormalities is discussed.

Full text

PDF
934

Images in this article

934Fig 1
on p.934
936Fig 2
on p.936
936Fig 3
on p.936
936Fig 4
on p.936

Selected References

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

  1. Barnes H. D., Hurworth E., Millar J. H. Erythropoietic porphyrin hepatitis. J Clin Pathol. 1968 Mar;21(2):157–159. doi: 10.1136/jcp.21.2.157. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bhutani L. K., Deshpande S. G., Sood S. K. Erythropoietic protoporphyria: first report in an Indian. Br Med J. 1972 Sep 23;3(5829):741–742. doi: 10.1136/bmj.3.5829.741. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Cripps D. J., MacEachern W. N. Hepatic and erythropoietic protoporphyria. Delta-aminolevulinic acid synthetase, fluorescence, and microfluorospectrophotometric study. Arch Pathol. 1971 Jun;91(6):497–505. [PubMed] [Google Scholar]
  4. Cripps D. J., Scheuer P. J. Hepatobiliary changes in erythropoietic protoporphyria. Arch Pathol. 1965 Nov;80(5):500–508. [PubMed] [Google Scholar]
  5. DE MATTEIS F., RIMINGTON C. Disturbance of porphyrin metabolism caused by griseofulvin in mice. Br J Dermatol. 1963 Mar;75:91–104. doi: 10.1111/j.1365-2133.1963.tb13945.x. [DOI] [PubMed] [Google Scholar]
  6. Donaldson E. M., McCall A. J., Magnus I. A., Simpson J. R., Caldwell R. A., Hargreaves T. Erythropoietic protoporphyria: two deaths from hepatic cirrhosis. Br J Dermatol. 1971 Jan;84(1):14–24. doi: 10.1111/j.1365-2133.1971.tb14191.x. [DOI] [PubMed] [Google Scholar]
  7. ENGLAND M. T., COTTON V., FRENCH J. M. Faecal porphyrin excretion in normal subjects and in patients with the "malabsorption syndrome". Clin Sci. 1962 Jun;22:447–457. [PubMed] [Google Scholar]
  8. GRANICK S., URATA G. Increase in activity of alpha-aminolevulinic acid synthetase in liver mitochondria induced by feeding of 3,5-dicarbethoxy-1,4-dihydrocollidine. J Biol Chem. 1963 Feb;238:821–827. [PubMed] [Google Scholar]
  9. HAEGER-ARONSEN B. ERYTHROPOIETIC PROTOPORPHYRIA. A NEW TYPE OF INBORN ERROR OF METABOLISM. Am J Med. 1963 Oct;35:450–454. doi: 10.1016/0002-9343(63)90144-x. [DOI] [PubMed] [Google Scholar]
  10. HARBER L. C., FLEISCHER A. S., BAER R. L. ERYTHROPOIETIC PROTOPORPHYRIA AND PHOTOHEMOLYSIS. JAMA. 1964 Jul 20;189:191–194. doi: 10.1001/jama.1964.03070030013004. [DOI] [PubMed] [Google Scholar]
  11. KOSENOW W., TREIBS A. Lichtüberempfindlichkeit und Porphyrinämie. Z Kinderheilkd. 1953;73(1):82–92. [PubMed] [Google Scholar]
  12. LANGHOF H., HEILMEYER L., CLOTTEN R., RIETSCHEL L. DIE ERYTHROPOETISCHE PROTOPORPHYRIE. PROTOPORPHYRINAEMISCHE LICHTDERMATOSE. Dtsch Med Wochenschr. 1964 Jul 3;89:1289–1293. doi: 10.1055/s-0028-1113128. [DOI] [PubMed] [Google Scholar]
  13. Lynch P. J., Miedler L. J. Erythropoietic protoporphyria. Report of a family and a clinical review. Arch Dermatol. 1965 Oct;92(4):351–356. doi: 10.1001/archderm.92.4.351. [DOI] [PubMed] [Google Scholar]
  14. MAGNUS I. A., JARRETT A., PRANKERD T. A., RIMINGTON C. Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia. Lancet. 1961 Aug 26;2(7200):448–451. doi: 10.1016/s0140-6736(61)92427-8. [DOI] [PubMed] [Google Scholar]
  15. Magnus I. A., Roe D. A., Bhutani L. K. Factors affecting the induction of porphyria in the laboratory rat. Biochemical and photobiological studies using diethyl 1,4-dihydro-2,4,6-trimethyl-pyridine-3,5-dicarboxylate (DDC) as a porphyrogenic agent. J Invest Dermatol. 1969 Dec;53(6):400–413. doi: 10.1038/jid.1969.167. [DOI] [PubMed] [Google Scholar]
  16. Nicholson D. C., Cowger M. L., Kalivas J., Thompson R. P., Gray C. H. Isotopic studies of the erythropoietic and hepatic components of congenital porphyria and 'erythropoietic' protoporphyria. Clin Sci. 1973 Feb;44(2):135–150. doi: 10.1042/cs0440135. [DOI] [PubMed] [Google Scholar]
  17. Roe D. A., Krook L., Wilkie B. N. Hepatic protoporphyria in weanling pigs. J Invest Dermatol. 1970 Jan;54(1):53–64. doi: 10.1111/1523-1747.ep12551671. [DOI] [PubMed] [Google Scholar]
  18. Schmidt D., Stich W. Erythropoetische Protoporphyrie mit Porphyrinurie. Untersuchungen zur Frage der Leberbeteiligung bei erythropoetischer Protoporphyrie. Blut. 1971 Apr;22(4):202–210. doi: 10.1007/BF01633615. [DOI] [PubMed] [Google Scholar]
  19. Scholnick P., Marver H. S., Schmid R. Erythropoietic protoporphyria: evidence for multiple sites of excess protoporphyrin formation. J Clin Invest. 1971 Jan;50(1):203–207. doi: 10.1172/JCI106474. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Scott A. J., Ansford A. J., Webster B. H., Stringer H. C. Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure. Am J Med. 1973 Feb;54(2):251–259. doi: 10.1016/0002-9343(73)90230-1. [DOI] [PubMed] [Google Scholar]
  21. Stanoeva L., Miovski D., Cadikovski P. Erythropoietic protoporphyria. Br J Dermatol. 1971 Dec;85(6):540–545. doi: 10.1111/j.1365-2133.1971.tb14079.x. [DOI] [PubMed] [Google Scholar]

Articles from Gut are provided here courtesy of BMJ Publishing Group

RESOURCES