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SERPINB8-pEDD

Previously: Peeling skin syndrome 5/exfoliative ichthyosis

pEDD Gene: SERPINB8 AR

Onset: Infancy

Pathway: Enzymes and their inhibitors

Category Paper: pEDD Paper

Key Clinical Clues

PPK associated with peeling over feet and limbs.

Additional Cutaneous Features

Peeling over feet and limbs

References

Pigors M, Sarig O, Heinz L et al. Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions. Am J Hum Genet 2016; 99:430-6.

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