Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.
A woman aged 54 was studied because of a severe acute porphyric (neurologic) relapse with clinical and chemical findings characteristic of porphyria variegata. During a family survey, her brother, aged 59, was found to have chemical abnormalities typical of porphyria cutanea tarda, without suggestion of neurologic manifestations. He had mild skin changes compatible with either of these forms of porphyria. The sister exhibited the protocoproporphyria of porphyria variegata, together with a large amount of fecal "x" porphyrin fraction, without demonstrable isocoproporphyrins. The brother had a uro-isocopro-type of porphyria in accord with the diagnosis of porphyria cutanea tarda, and quite at variance with the sister's findings. This occurrence of porphyria variegata and porphyria cutanea tarda in siblings is thus far unique. Certain hypotheses are considered in respect to genetic aspects of the differing prophyrias in this sibling pair.
D000208:Acute Disease; D000328:Adult; D003305:Coproporphyrinogens / Q000378:metabolism; D005243:Feces / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics* / Q000378:metabolism; D014578:Uroporphyrins / Q000378:metabolism
D003305:Coproporphyrinogens; D014578:Uroporphyrins