Back to Database

CSTA-nEDD

Previously: Peeling skin syndrome

nEDD Gene: CSTA AR

Onset: Infancy

Pathway: Structural proteins

Category Paper: nEDD Paper

CSTA-nEDD: superficial peeling of the skin and erythema on the dorsum of the foot.

Key Clinical Clues

Generalized or acral superficial skin peeling without erythema, rare reports of erythroderma at birth.

References

Blaydon DC, Nitoiu D, Eckl K-M et al. Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet 2011; 89:564-71.

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