KRT-nEDD-revertant mosaic

Previously: Ichthyosis with confetti

nEDD Gene: KRT1, KRT10 AD

Onset: Infancy

Pathway: Structural proteins

Category Paper: nEDD Paper

KRT-nEDD-revertant mosaic: KRT10-nEDD-revertant (rev) mosaic: severe erythroderma with large, superficial scaling in a newborn baby with this condition (formerly known as ichthyosis with confetti).

KRT10-nEDD-revertant (rev) mosaic: severe erythroderma with large, superficial scaling in a newborn baby with this condition (formerly known as ichthyosis with confetti).

Key Clinical Clues

Slowly enlarging round islands of normal skin upon generalized erythroderma, beginning in childhood.

Additional Cutaneous Features

Localized normal skin following the lines of Blaschko, appearing in early infancy. Histopathology: Perinuclear vacuolation, rare binucleate keratinocytes, compact thickening of the stratum corneum; revertant spots show histological normal skin.

Treatment

Small molecules, siRNA, repurposed drugs.

References

Choate KA, Lu Y, Zhou J et al. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 2015; 125:1703-7. || Choate KA, Lu Y, Zhou J et al. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science 2010; 330:94-7.

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