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GJB2-pEDD-leuconychia

Previously: Bart-Pumphrey syndrome

pEDD Gene: GJB2 AD
Onset: Childhood
Pathway: Channels
Category Paper: pEDD Paper

Key Clinical Clues

Hearing loss, knuckle pads, leuconychia.

Additional Cutaneous Features

Knuckle pads, leuconychia

Additional Extracutaneous Features

Hearing loss

Treatment

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

References

Richard G, Brown N, Ishida-Yamamoto A et al. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol 2004; 123:856-63.

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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