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Erythropoietic protoporphyria
Author(s) -
MACDONALD D.M.,
NICHOLSON D.C.
Publication year - 1976
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.1365-2133.1976.tb00819.x
Subject(s) - erythropoietic protoporphyria , porphyria , medicine , photosensitivity , disease , dermatology , acute intermittent porphyria , lesion , protoporphyrin , pathology , biology , porphyrin , physics , quantum mechanics , biochemistry
SUMMARY The terminal stages of erythropoietic protoporphyria are recorded. The observations are related the site of the fundamental lesion and the nature of the biochemical defect. The possibly ominous prognosis in this usually mild condition is emphasized. Apart from congenital porphyria, the porphyrias do not usually confer severe cutaneous lesions. These diseases present to dermatologists because of moderate photosensitivity and are not usually regarded as a risk to life. Dangerous central nervous system involvement may occur, however, acute intermittent, variegate and hereditary coproporphyrias, while in acquired symptomatic por‐phyria severe underlying liver dysfunction may occur. Probably the most common familial photosensitizing porphyria is erythropoietic protoporphyria. Recently some deaths from severe liver involvement have been reported in this disease.