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GJB6-pEDD

Previously: Clouston syndrome

pEDD Gene: GJB6 AD

Onset: Childhood

Pathway: Channels

Category Paper: pEDD Paper

GJB6-pEDD: subungual hyperkeratosis of the fingernails and focal, plantar keratoderma.

Key Clinical Clues

Hypotrichosis of eyebrows/scalp, mild PPK, subungual thickening.

Additional Cutaneous Features

Hypotrichosis of eyebrows and scalp, mild PPK, nail abnormalities, including subungual thickening

Treatment

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

References

Lamartine J, Munhoz Essenfelder G, Kibar Z et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000; 26:142-4.

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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