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KRT-nEDD-mosaic

Previously: Epidermolytic naevus

nEDD Gene: KRT1, KRT2, KRT10, KRT16 Postzygotic mosaicism

Onset: Birth to infancy

Pathway: Structural proteins

Category Paper: nEDD Paper

KRT10-nEDD-mosaic: severe grey skin thickening on the legs, following the lines of Blaschko.

Key Clinical Clues

Localized skin thickening, scaling and erosions following the lines of Blaschko.

Additional Cutaneous Features

Histopathology (KRT1, KRT10, KRT16): Granular degeneration, perinuclear vacuoles, sometimes epidermolysis. Histopathology (KRT2): Granular degeneration and sometimes epidermolysis in superficial epidermis. Rare binuclear keratinocytes.

Treatment

Small molecules, siRNA, repurposed drugs.

References

Tsubota A, Akiyama M, Sakai K et al. Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. J Invest Dermatol 2007; 127:1371-4. || Diociaiuti A, Castiglia D, Corbeddu M et al. First case of KRT2 epidermolytic nevus and novel clinical and genetic findings in 26 Italian patients with keratinopathic ichthyoses. Int J Mol Sci 2020; 21:7707. || Samuelov L. Sarig O, Gat A et al. Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10. Br J Dermatol 2015; 173:293-6. || Terrinoni A, De Laurenzi V, Candi E et al. A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. J Invest Dermatol 2000; 114:1136-40.

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