Palmoplantar keratoderma with deafness, also known as Palmoplantar keratoderma-deafness syndrome is a rare genetic disorder which is characterized by either focal or diffuse early-onset palmoplantar keratoderma and sensorineural deafness. Transmission is autosomal dominant with incomplete penetrance.
Signs and symptoms
Individuals with this condition usually have palmoplantar keratoderma of the thenars, hypothenars, and the foot arch. These symptoms usually start in early-late infancy which is accompanied by deafness of variable onset.[2][3]
Treatment
Usually, the basic forms of treatment of both deafness and palmoplantar keratoderma are combined, that is, used at the same time, to treat PKD, these include:
According to OMIM,[9] 4 families worldwide have been described with the disorder,[10][11][12] although other sources say there are 10 families.[13] An exact number of cases cannot be said for certain, since most case reports don't specify them.
^de Zwart-Storm, E. A.; Hamm, H.; Stoevesandt, J.; Steijlen, P. M.; Martin, P. E.; van Geel, M.; van Steensel, M. a. M. (March 2008). "A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness". Journal of Medical Genetics. 45 (3): 161–166. doi:10.1136/jmg.2007.052332. ISSN1468-6244. PMID17993581. S2CID12114132.
