Homozygous variegate porphyria. A severe skin disease of infancy.
A boy exhibited severe bullous skin disease a few days after birth, followed by increased fragility of the exposed skin in spring and summer. Examination at 2 1/2 years of age led to characteristic biochemical findings: increased excretion of fecal porphyrins (coproporphyrin 121 to 131 and protoporphyrin 467 to 576 nmol/g dry weight), and increased erythrocyte protoporphyrin concentration (3643 to 4840 nmol/l). Lymphocyte protoporphyrinogen oxidase activity was very low in the patient (0.4 nmol/mg protein/h) and half-normal (2.7 and 2.3 nmol/mg protein/h) in the parents, suggesting that the patient had homozygous variegate porphyria. Severe skin symptoms and a high concentration of red cell protoporphyrin concentration in an infant should prompt suspicion of homozygous acute hepatic porphyria.
Mustajoki
P
P
Third Department of Medicine, University of Helsinki, Finland.
Tenhunen
R
R
Niemi
K M
KM
Nordmann
Y
Y
Kääriäinen
H
H
Norio
R
R
D000208:Acute Disease; D002675:Child, Preschool; D003306:Coproporphyrins / Q000032:analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics* / Q000378:metabolism; D011524:Protoporphyrins / Q000032:analysis; D012872:Skin Diseases, Vesiculobullous / Q000235:genetics* / Q000378:metabolism; D014578:Uroporphyrins / Q000032:analysis
D003306:Coproporphyrins; D011524:Protoporphyrins; D014578:Uroporphyrins