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KLF4-sEDD

Previously: Erythrokeratodermia variabilis et progressiva

sEDD Gene: KLF4 AD

Onset: Birth

Pathway: Transcription factor

Category Paper: sEDD Paper

Key Clinical Clues

Diffuse skin thickening, palm and soles thickened, hypotrichosis.

Additional Cutaneous Features

Diffuse skin thickening with or without hyperpigmentation, periorificial scaling and erythema (angular cheilitis, eyes, nostrils, anus, genitalia); palmoplantar thickening with transgrediens, follicular-based keratoses, hypertrophic nail dystrophy, sparse/brittle hair, sometimes scarring alopecia.

Additional Extracutaneous Features

Facultative sensorineural deafness, lymphoedema of lower legs.

References

Wang Z, Zhang Z, Liu J et al. A loss-of-function variant in KLF4 affecting zinc finger motifs causes progressive symmetric erythrokeratodermia. Br J Dermatol 2024; 191:843-5. || Wang Z, Liu J, Wechsberg O et al. Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis. Br J Dermatol 2025; https://doi.org/10.1093/bjd/ljaf062 (Epub ahead of print).

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