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DSG1-pEDD

Previously: Striate PPK I

pEDD Gene: DSG1 AD

Onset: Childhood

Pathway: Structural Proteins

Category Paper: pEDD Paper

DSG1-pEDD: striate keratoderma on the palm.

Key Clinical Clues

Focal/diffuse or striate keratoderma, not painful.

References

Keren H, Bergman R, Mizrachi M et al. Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. Arch Dermatol 2005; 141:625-8. | Rickman L, Simrak D, Stevens HP et al. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999; 8:971-6. | Milingou M, Wood P, Masouye I et al. Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology 2006; 212:117-22.

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