Vorner syndrome

Diffuse, yellowish palmar and plantar hyperkeratosis (‘keratoderma’) with a red border. Patients may have blistering in affected areas triggered by trauma, such as friction, however the blistering often appears to improve with age. A rare variant with characteristic electron microscopic findings (“tonotubular keratin”) has been reported in Northern Europe.

Tests Available

Forms and Documents

Test Details

  • Confirmation of clinical diagnosis
  • Prenatal diagnosis

Ordering

208
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
No
Yes
  • 759.39 Congenital Keratoderma
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Reis et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet. 1994: 6(2):174-9
  2. Terrinoni et al. Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma. Eur J Dermatol. 2004:14(6):375-8
  3. Kon et al. L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma. Br J Dermatol. 2006;155(3):624-6