Congenital erythropoietic porphyria

Skin Pharmacology and Applied Skin Physiology

Volumn 11, Issue 6, 1998, Pages 347-357

  Fritsch, C ^a   Lang, K ^a   Bolsen, K ^a   Lehmann, P ^a   Ruzicka, T ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Acroosteolysis; Congenital erythropoietic porphyria (CEP); Gunther's disease; Porphyria; Uroporphyrinogen III cosynthase

Indexed keywords

ADENOSINE PHOSPHATE; ALPHA TOCOPHEROL; BETA CAROTENE; CHLOROQUINE; GLUCOCORTICOID; HEMATIN; HISTAMINE H1 RECEPTOR ANTAGONIST; HISTAMINE H2 RECEPTOR ANTAGONIST; OXYGEN; PORPHYRIN; UROPORPHYRIN; UROPORPHYRINOGEN III SYNTHASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE MARROW TRANSPLANTATION; CALCIFICATION; CLINICAL TRIAL; CONGENITAL ERYTHROPOIETIC PORPHYRIA; ERYTHROCYTE; ERYTHROCYTE TRANSFUSION; FECES ANALYSIS; HEMOLYTIC ANEMIA; HOMOZYGOTE; HUMAN; INTRAVENOUS DRUG ADMINISTRATION; ORAL DRUG ADMINISTRATION; OSTEOLYSIS; PHOTOTOXICITY; PORPHYRIN METABOLISM; PRIORITY JOURNAL; SKIN DEFECT; SKIN ULCER; SPLENECTOMY; SPLENOMEGALY; STEM CELL TRANSPLANTATION; SUNLIGHT; URINARY EXCRETION;

ADOLESCENT; ADULT; BONE AND BONES; FECES; FEMALE; HUMANS; MALE; MIDDLE AGED; PORPHYRIA, ERYTHROPOIETIC; PORPHYRINS;

EID: 0032466060     PISSN: 14222868     EISSN: None     Source Type: Journal    
DOI: 10.1159/000029857     Document Type: Article

References (20)

1. Schultz JH: Ein Fall von Pemphigus leprosus, compliciert durch Lepra visceralis; thesis, Greifswald, 1874.
2. Günther H: Die Haematoporphyrie. Dtsch Arch Lin Med 1911/1912;105:89-146.
3. Fischer H: Über Porphyrinurie. Münch Med Wochenschr 1916;113:377-382.
4. Fischer H: Über das Kotporphyrin. Z Physiol Chem 1915;96:148-182.
5. Dobriner K: Urinary porphyrins in disease. J Biol Chem 1936;113:1-10.
6. Dobriner K, Strain WH, Guild H, Localio SA: The excretion of porphyrins in congenital porphyria. J Clin Invest 1938;17:761-764.
7. Borst M, Koenigsdoerffer H: Untersuchungen über Porphyrie mit besonderer Berücksichtigung der Porphyria congenita. Leipzig, Hirzel, 1929.
8. Neuberger A, Muir HM, Gray CH: Biosynthesis of porphyrins and congenital porphyria. Nature 1950;165:948-950.
9. Waldenström J: Studien über Porphyrie. Acta Med Scand Suppl 1937;82:1-254.
10. Schmid R, Schwartz S, Watson CJ: Porphyrin content of bone marrow and liver in the various forms of porphyria. AMA Arch Intern Med 1954;93:167-190.
11. Jung EG: Porphyria erythropoietica congenita Günther. Dtsch Med Wochenschr 1971;102:279-280.
12. Aust D: Klinische und biochemische Untersuchungen zur Porphyria congenita Günther, thesis, Düsseldorf, 1972.
13. Garrod AE: Congenital porphyrinuria, a postcript. Q J Med 1936;5:473-480.
14. Heilmeyer LE, Clotten R, Kerp L, Merker H, Parra CA, Wetzel HP: Porphyria erythropoietica congenita Günther: Bericht über zwei Familien mit Erfassung der Merkmalsträger. Dtsch Med Wochenschr 1963;88:2449-2456.
15. El-Mofty AM: Cutaneous porphyrias in Egyptians. Br J Dermatol 1964;76:268-277.
16. Chatterji AK, Chatterjea LB: Porphyria erythropoietica in India: A review report on 21 cases. J Indian Med Assoc 1971;56:255-269.
17. Marver HS, Schmid R: The porphyrias; in Stanbury JB, Wyngaarden JB, Fredickson DS (eds): The Metabolic Basis of Inherited Disease, ed 4. New York, McGraw-Hill, 1978, pp 1325-1333.
18. Ippen H, Fuchs T: Congenital porphyria. Clin Haematol 1980;9:323-344.
19. Kappas A, Sassa S, Galbraith RA, Nordman Y: The porphyrias; in Stanbury JB, Wyngaarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 1989, pp 1305-1365.
20. Fritsch C, Bolsen K, Ruzicka T, Goerz G: Congenital erythropoietic porphyria: Clinical review. J Am Acad Dermatol 1997;36:594-610.