Keratoderma of Vohwinkel
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.
Q82.8 – Other specified congenital malformations of skin
24559001 – Mutilating keratoderma
Differential Diagnosis & Pitfalls
Other hereditary PPKs with pseudoainhum include:
- – associated with perioral keratotic plaques
- – hypertrophic nail dystrophy present
- Sybert keratoderma – associated with nail and dental manifestations
- – 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.
- – 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.
- 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.