Non-epidermolytic Palmoplantar Keratoderma (NEPPK)

Striate, focal or diffuse palmar and plantar hyperkeratosis (‘keratoderma’) without a red border. Patients usually have no history of skin blistering. Involvement of other skin areas, especially over joints (knuckles, finger joints, elbows, knees) is possible. In Ichthyosis hystrix type Curth-Macklin, hyperkeratosis of palms and soles is extremely severe and debilitating, usually associated with severe contractures of the digits and deep, painful fissures. In Greither disease, NEPPK extends to the extensor surface of the limbs. In contrast to syndromic forms of NEPPK, those due to keratin mutations are not associated with other organ abnormalities.

Tests Available

Forms and Documents

Test Details

KRT1
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1182
6 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x1
Yes
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Irvine & McLean. Human keratin diseases: the increasing spectrum of disease and subtlety of the genotype-phenotype correlation. Br J Dermatol 140:815-828, 1999

Forms and Documents

Test Details

KRT16
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2121
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 759.39 Congenital Keratoderma
* For price inquiries please email zebras@genedx.com

References

  1. Terrinoni et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 117:1391-1396, 2001
  2. Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
  3. Smith et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multipolex. J Invest Dermatol 1108:220-223, 1997