Keratosis palmoplantaris with mutations in connexin 26

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.

Skin:

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

Ear:

• Hearing loss.

Anamnesis.

Clinical.

Genetic examination.

HNO – medical examination.

Keratolytic.

Refatting care.

Acitretin 0.1 mg per kg bw daily.

HNO – medical checks.

1. Zhang M, Song K, Ding N, Shu C, Wang Y. Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome. 
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.