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

KRT9
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

208
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

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