KRT83 – Erythrokeratodermia variabilis

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare hereditary skin disorder characterized by hyperkeratotic plaques and transient erythematous patches that worsen over time. While classical EKVP is predominantly linked to dominant connexin gene mutations, recent evidence implicates KRT83 as one of four non-connexin loci associated with the phenotype (PMID:39513663). To date, no specific KRT83 variants or segregation data have been reported, and the pathogenic mechanism remains undefined.

Given the absence of proband-level variant descriptions and lack of experimental validation in KRT83, the gene–disease association remains at a limited level. Functional studies are lacking for KRT83 in EKVP, and no conflicting reports have emerged. Additional case series and molecular analyses are required to substantiate KRT83’s role and enable diagnostic or therapeutic decision-making.

Key take-home: Current evidence for KRT83 in EKVP is insufficient for clinical testing; further genetic and functional studies are needed.

References

• The Biochemical journal • 2024 • The genetic and molecular basis of a connexin-linked skin disease PMID:39513663

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