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Late onset erythropoietic porphyria
Author(s) -
HORIGUCHI Y.,
HORIO T.,
YAMAMOTO M.,
TANAKA T.,
SEKI Y.,
IMAMURA S.
Publication year - 1989
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1989.tb01808.x
Subject(s) - porphyria , porphobilinogen , porphyria cutanea tarda , medicine , urine , dermatology , endocrinology
SUMMARY A 51‐year‐old Japanese man and his 56‐year‐old sister of consanguineous parents had skin lesions with areas of dark‐brown pigmentation and blisters with minimal trauma on sunexposed skin which resembled those seen in porphyria cutanea tarda. Their fresh urine was wine‐red in colour and fluoresced with ultraviolet light. The peripheral blood contained fluorocytes and porphyrin analysis of the red blood cells, urine and faeces of the patients revealed an increase of the isotype I of uro‐ and coproporphyrin and normal concentrations of δ‐aminolaevulinate and porphobilinogen, suggesting the diagnosis of erythropoietic porphyria. No other members of this family had symptoms or biochemical findings suggestive of porphyria. We consider these two cases to be that of late onset erythropoietic porphyria.