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FLG-nEDD

Previously: Ichthyosis vulgaris

nEDD Gene: FLG AD

Onset: Infancy to childhood

Pathway: Structural proteins

Category Paper: nEDD Paper

FLG-nEDD: darker polygonal scaling is most pronounced on the lower leg in this patient with skin of colour.

Key Clinical Clues

Generalized fine scaling and palmoplantar hyperlinearity, variable keratosis pilaris, atopic diathesis, PPK.

Additional Cutaneous Features

Histopathology: Absence or thinning of granular layers, follicular plugging.

Treatment

Readthrough therapy for FLG nonsense variants.

References

Smith FJD, Irvine AD, Terron-Kwiatkowski A et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38:337-42. || Palmer CNA, Irvine AD, Terron-Kwiatkowski A et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006; 38:441-6.

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