GJB4-nEDD

Previously: Erythrokeratodermia variabilis et progressiva

nEDD Gene: GJB4 AD

Onset: Infancy

Pathway: Channels

Category Paper: nEDD Paper

Key Clinical Clues

Relatively fixed well-demarcated thickened and erythematous plaques that expand and contract in area, and transient erythematous, polycyclic macular patches.

Treatment

Removal of causative variant connexin molecules using small molecules, siRNA or antibodies.

References

van Steensel MAM, Oranje AP, van der Schroeff JG et al. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. Am J Med Genet A 2009; 149A:657-61. || Macari F. Landau M, Cousin P et al. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet 2000; 67:1296-301.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer