Hidrotic ectodermal dysplasia

In contrast to the much more common X-linked form of ectodermal dysplasia, most of the patients with the autosomal dominant form have: normal sweat and sebaceous gland function; partial to total alopecia; nail hypoplasia and nail deformities; skin hyperpigmentation, particularly over the joints; normal teeth; and palmoplantar keratoderma.

Tests Available

Forms and Documents

Test Details

GJB6 (Cx30)
  • Confirmation of the clinical diagnosis
  • To distinguish between different forms of ectodermal dysplasias
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

157
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.31 Congenital ectodermal dysplasia
* For price inquiries please email zebras@genedx.com

References

  1. Jan et al. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004 May;122(5):1108-13
  2. Smith et al. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol. 2002 Mar; 118(3):530-2
  3. van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol. 2003 Nov;121(5):1035-8
  4. Lamartine et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000 Oct;26(2):142-4