TRPM4-nEDD

Previously: Erythrokeratodermia variabilis et progressiva

nEDD Gene: TRPM4 AD

Onset: Infancy

Pathway: Channels

Category Paper: nEDD Paper

Key Clinical Clues

Erythematous thickened plaques beginning on the distal extremities and progressing to involve the face, wrists and ankles, with sparing of the volar surfaces; slowly progressive, spontaneous remission after puberty.

References

Wang H, Xu Z, Lee BH et al. Gain-of-function mutations in TRPM4 activation gate cause progressive symmetric erythrokeratodermia. J Invest Dermatol 2019; 139:1089-97.

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