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GJB2-pEDD-honeycomb

Previously: Vohwinkel syndrome

pEDD Gene: GJB2 AD

Onset: Early childhood

Pathway: Channels

Category Paper: pEDD Paper

Key Clinical Clues

Starfish-like keratoses, honeycomb keratoderma, hearing loss, pseudoainhum.

Additional Cutaneous Features

Starfish-like keratoses, honeycomb keratoderma, pseudoainhum

Additional Extracutaneous Features

Hearing loss

Treatment

Potential for antisense oligonucleotides, mAbs (Mammano, 2024).

References

Maestrini E, Korge BP, Ocana-Sierra J et al. A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 1999; 8:1237-43.

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

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The database is still being verified and entries may be incomplete. Do not rely on it without independent professional judgement.

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