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GJA1-nEDD

Previously: Erythrokeratodermia variabilis et progressiva

nEDD Gene: GJA1 AD

Onset: Infancy

Pathway: Channels

Category Paper: nEDD Paper

GJA1-nEDD: young woman with variable inflamed or hyperpigmented plaques.

Key Clinical Clues

Normal skin at birth, periorificial and intertriginous darkening, leuconychia, generalized or localized thickened erythematous plaques that expand and contract; most have PPK, some patients have hypotrichosis of scalp and eyebrows.

Treatment

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

References

Boyden LM, Craiglow BG, Zhou J et al. Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia. J Invest Dermatol 2015; 135:1540-7.

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