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KRT1-pEDD-spiny

Previously: Ichthyosis hystrix, Curth-Macklin type

pEDD Gene: KRT1 AD

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Severe skin thickening with spiky/spiny appearance; pseudoainhum.

Additional Cutaneous Features

Usually hyperkeratotic plaques on elbows and knees, severe PPK

References

Sprecher E, Ishida-Yamamoto A, Becker OM et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol 2001; 116:511-19.

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