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CAST-pEDD

Previously: Peeling skin with leuconychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome

pEDD Gene: CAST AR

Onset: Infancy

Pathway: Enzymes and their inhibitors

Category Paper: pEDD Paper

Key Clinical Clues

Punctate papules on palms/soles, cheilitis, leuconychia, knuckle pads, peeling skin.

Additional Cutaneous Features

Early onset of punctate papules on palms and soles, cheilitis, leuconychia, knuckle pads, peeling skin

References

Lin Z, Zhao J, Nitoiu D et al. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet 2015; 96:440-7.

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