Alice Melao,  —

Researchers at the University of Alberta in Canada reported a case of porphyria cutanea tarda that presented with rare symptoms, such as skin scarring, loss of pigmentation, and hair loss. The case report, “Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo,” was published in…

A newly identified mutation in the HMBS gene was found to be linked to acute intermittent porphyria in a patient in China. The case report,  “Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type…

Relapses are more frequent among porphyria cutanea tarda patients who had previously achieved remission with antimalarial medications, a study shows. The study, “Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4‐aminoquinoline antimalarial: A Meta‐analysis,” was published in the British Journal of Dermatology.

Investigative drug candidate givosiran significantly reduced porphyria attacks in two clinical trials, according to a recent presentation at the European Association for the Study of the Liver (EASL) 53rdAnnual International Liver Congress, in Paris, France. The presentation on the safety and efficacy data of givosiran in patients…

The diagnosis of porphyria often is delayed, which highlights the need for increased awareness among clinical physicians. A case report by researchers in the United Kingdom illustrates that point as it describes a patient with acute intermittent porphyria that, despite having all the classical clinical features, was diagnosed tardily. The…