[MIM 149 200]

Very rare: described in some families. Autosomal dominant transmission of a mutation of the GJB2 gene (13q12.11) coding for connexin 26.

Association of:

-        palmoplantar hyperkeratosis

-        complete leuconychia

-        deafness of varying origin

-        hyperkeratosic or fibrous thickening on the extension face of the small joints of the hands and feet.

Anesthetic implications: 

hearing-impaired patient

References:

-        Al-Hamdi K, Qals SA, Abduljabbar NH.
Bart-Pumphrey syndrome.
JAMA Dermatology Jul 2020

Updated: August 2020