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CTSB-pEDD

Previously: Keratolytic winter erythema

pEDD Gene: CTSB AD

Onset: Childhood

Pathway: Enzymes and their inhibitors

Category Paper: pEDD Paper

Key Clinical Clues

Recurrent palmoplantar erythema and centrifugal peeling, triggered by cold/stress.

Additional Cutaneous Features

Recurrent episodes of palmoplantar erythema and centrifugal epidermal peeling, sometimes associated with slowly migratory, annular erythema over extremities

References

Ngcungcu T, Oti M, Sitek JC et al. Duplicated enhancer region increases expression of CTSB and segregates with keratolytic winter erythema in South African and Norwegian families. Am J Hum Genet 2017; 100:737-50.

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