PERP-nEDD-AR

Previously: Erythrokeratodermia variabilis et progressiva

nEDD Gene: PERP AD, AR

Onset: Infancy

Pathway: Structural proteins

Category Paper: nEDD Paper

PERP-nEDD-AR: diffuse and rough thickening of the soles extending to the lateral aspects of the feet (classically referred to as transgrediens). Note the onychodystrophy of the first toenail on the left foot, as well as diffuse dark hyperpigmentation in the adjacent areas.

Key Clinical Clues

PPK extending to the dorsal surface of the hands and feet (transgrediens), thickened erythematous plaques on the trunk, yellow hair and nail dystrophy. Recessive cases affect whole body.

Additional Cutaneous Features

Susceptibility to cutaneous fungal infection.

References

Duchatelet S, Boyden LM, Ishida-Yamamoto A et al. Mutations in PERP cause dominant and recessive keratoderma. J Invest Dermatol 2019; 139:380-90.

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