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This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.

This review discusses the mechanisms associated with protoporphyrin IX in living cells and reports no clinical results; the authors emphasize its potential in cancer diagnosis and the risks of toxicity.

This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.

This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.

This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.