Keratosis palmoplantaris with mutations in connexin 26

Last Updated: 2023-07-07

Author(s): Anzengruber F., Navarini A.

ICD11: -

Vohwinkel 1929

Keratosis palmoplantaris mutilans

Keratosis palmoplantaris mutilans Vohwinkel

Keratitis – Ichthyosis – Deafness (KID) – Syndrome

Palmoplantar keratosis, which is caused by a mutation of connexin 26.

Autosomal – dominant mutation in the gene GJB2, which codes for connexin 26.



  • Hyperkeratosis palmoplantar.
  • Hyperhidrosis.
  • Ichthyosis, which mainly affects the acras, but may progress to erythroderma.
  • Pseudoainhum (auto-amputations of the fingers).


  • Hearing loss.



Genetic examination.

HNO – medical examination.

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  2. Medicine (Baltimore). 2016 Feb;95(6):e2762. 
     Mercy P, Singh A, Ghorpade AK, Das MN, Upadhyay A, Keswani N. Vohwinkel syndrome with mental retardation. Indian J Dermatol Venereol Leprol. 2013 Sep-Oct;79(5):725. 
  3. Dippold S, Butsch F, Schopf R, Keilmann A. Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet. HNO. 2013 Jul;61(7):617-9.