Palmoplantar keratoderma with deafness

Definition:

Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome.

References:

[1]. Dwan A Gerido, et al. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol. 2007 Jul;293(1):C337-45. [Content Brief]

[2]. E A de Zwart-Storm, et al. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet. 2008 Mar;45(3):161-6. [Content Brief]

[3]. Jack R Lee, et al. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009 Nov 19;11:e35. [Content Brief]

[4]. Jae Yeol Lee, et al. Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. J Korean Med Sci. 2010 Oct;25(10):1539-42. [Content Brief]

[5]. Ralf Birkenhäger, et al. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. Am J Med Genet A. 2010 Jul;152A(7):1798-802. [Content Brief]

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