GJB3-nEDD

Previously: Erythrokeratodermia variabilis et progressiva

nEDD Gene: GJB3 AD, AR (rare)

Onset: Infancy

Pathway: Channels

Category Paper: nEDD Paper

GJB3-nEDD: well-demarcated erythema with scaling on the lower extremities (formerly known as erythrokeratodermia variabilis et progressiva).

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

Richard G, Smith LE, Bailey RA et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 1998; 20:366-9. || Gottfried I, Landau M, Glaser F et al. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet 2002; 11:1311-16.

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