Epidermolytic Palmoplantar Keratoderma (EPPK)

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

Forms and Documents

Test Details

ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, FLG, GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30), KRT1, KRT10, KRT2, KRT9, LIPN, LOR, NIPAL4(Ichthyin), PEX7, PHGDH, PHYH, PNPLA1, PNPLA2, POMP, PSAT1, SDR9C7, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24
  • Identification of the specific molecular basis of congential ichthyosis or related skin disorders
  • Genetic counseling and recurrence risk assessment
  • Option for prenatal testing in future pregnancies

As needed, based on the referring diagnosis and coverage achieved by the XomeDxSlice-Ichthyosis for a given patient, critical exons with a high yield of mutations will be filled-in by dideoxy sequencing. For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not sufficiently covered (>10X) to find the second mutation. If no second mutation is found by sequencing, deletion/duplication analysis of that gene can be performed at no additional cost can be performed at no additional cost.

Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.\\\"

  • Next-Gen Sequencing

Ordering

708
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81252x1, 81254x1, 81479x11
Yes
Yes
* For price inquiries please email zebras@genedx.com