Patients with porphyria cutanea tarda have more cutaneous lesions in summer than in winter, but only after prolonged and chronic exposure to light. Some patients excrete red, fluorescent urine during ...

Congenital erythropietic porphyria (CEP), or Gunther's disease, is one of the rarest of the porphyrias, a group of metabolic disorders in which excessive quantities of porphyrins or their precursors ...

Variegate porphyria (VP) is an autosomal dominant condition that results from the deficiency of protoporphyrinogen oxidase (PPOX, EC 1.3). The build-up of porphyrin precursors delta-aminolevulinic ...

The vampyre disease has reappeared in America. Intolerance to light, garlic, and neurological disorders. Explaining why it is called that is superfluous; instead, understanding what porphyria (the ...

A generally healthy 71-year-old woman was referred to dermatology for evaluation of a six-month history of large blisters on the dorsal surface of both hands, associated with mild pruritus and burning ...

Congenital erythropoietic porphyria, a rare autosomal recessive disorder of heme biosynthesis, results from markedly deficient uroporphyrinogen III synthase activity. 1,2 Data regarding pregnancy in ...

Alnylam is to file its givosiran with regulators to treat a form of the blood disease porphyria, applying its gene silencing technology to the condition for the first time, following supportive ...