PORPHYRIA is that rare familial metabolic fault in which abnormal kinds and amounts of porphyrins, especially uroporphyrin, are excreted in the urine and feces. The disease may be latent or asymptomatic for years or for life, and the urine may or may not have an abnormal coloration. Surveys of families in which porphyria occurs may disclose the presence of uroporphyrin or the colorless porphobilinogen in the urine of apparently normal persons. Although the chemistry and physiology of the porphyrins are complex, the performance of tests, at least of the qualitative tests for urinary porphyrins, is not beyond the range of most laboratory facilities.
Porphyria finds clinical expression in various forms: the acute type, in which intermittent episodes of serious gastrointestinal or nervous and mental symptoms occur; the rare congenital type, which may begin in earliest childhood with symptoms such as redness of urine, erythrodontia, a hydroa-like, mutilating eruption of the skin which is exposed to
BRUNSTING LA, MASON HL. PORPHYRIA WITH CUTANEOUS MANIFESTATIONS. Arch Derm Syphilol. 1949;60(1):66–81. doi:10.1001/archderm.1949.01530010069005
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