Vohwinkel syndrome (VWS) is a rare autosomal dominant inherited palmoplantar keratoderma (PPK) caused by a mutation in the GJB2 gene that encodes connexin 26. Connexin 26 is found in gap junctions in the skin and the cochlea. It plays a role in skin and inner ear homeostasis, as gap junctions function in allowing flow of nutrients and signaling molecules between cells.
The syndrome typically presents in infancy or early childhood. The PPK classically shows a diffuse honeycomb pattern. Additional features include starfish-shaped keratotic plaques on dorsal hands, feet, elbows, and knees as well as constricting digital bands around fingers and toes termed pseudoainhum, which may progress to autoamputation. High-frequency hearing loss is typically associated.
Keratoderma of Vohwinkel
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Synopsis
Codes
ICD10CM:
Q82.8 – Other specified congenital malformations of skin
SNOMEDCT:
24559001 – Mutilating keratoderma
Q82.8 – Other specified congenital malformations of skin
SNOMEDCT:
24559001 – Mutilating keratoderma
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Differential Diagnosis & Pitfalls
Loricrin keratoderma, formerly known as the variant form of VWS, also presents with a honeycomb PPK and pseudoainhum. There is no associated hearing loss; rather, there is mild ichthyosis. It is autosomal dominantly inherited and caused by mutations in the LOR gene.
Other hereditary PPKs with pseudoainhum include:
Other hereditary PPKs with pseudoainhum include:
- Olmsted syndrome – associated with perioral keratotic plaques
- Pachyonychia congenita – hypertrophic nail dystrophy present
- Sybert keratoderma – associated with nail and dental manifestations
- Mal de Meleda – a rare PPK associated with SLURP1 mutations and featuring stocking-glove distribution of hyperkeratosis with malodor and nail changes
- PPK of Gamborg-Nielsen
- Vorner (epidermolytic) PPK and Unna-Thost (nonepidermolytic) PPK are the result of keratin mutations and show waxy or verrucous, white-yellow, symmetric hyperkeratosis.
- Papillon-Lefèvre syndrome – an autosomal recessive genetic disorder caused by cathepsin C deficiency. Characterized by PPK and destructive periodontal disease, which manifests as gingival inflammation and loss of most primary and permanent teeth.
- Richner-Hanhart syndrome is associated with mutations in the gene that encodes tyrosine aminotransferase. Accumulation of tyrosine leads to focal (or diffuse) hyperkeratotic plaques on the hands, feet, elbows and knees, corneal inflammation / ulceration, and intellectual disability in some cases. Diets low in phenylalanine and tyrosine may prevent complications.
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Last Updated:01/18/2022
Keratoderma of Vohwinkel