Vohwinkel syndrome

Both the skin findings and the deafness are heterogeneous in clinical presentation in these disorders. In some cases the deafness is congenital. In others there is later onset hearing loss of moderate degree. The dermatologic features associated with deafness and GJB2 mutations are also variable: in Vohwinkel syndrome there is diffuse honeycomb hyperkeratosis of palms and soles with typical starfish keratoses on the dorsum. Pseudo-ainhum (constricting bands) and auto-amputation of digits may occur. The skin features of Bart-Pumphrey syndrome include hyperkeratotic plaques over knuckles and the dorsal digital joints (knuckle pads), leukonychia (white nails) and palmoplantar keratoderma. KID syndrome is an ectodermal dysplasia affecting the skin, hearing and vision and testing information is provided separately.

Tests Available

Forms and Documents

Test Details

GJB2 (Cx26)
  • Confirmation of a clinical diagnosis
  • To distinguish GJB2 disorders from other forms of palmoplantar keratoderma
  • Defining the inheritance pattern in the family or individual
  • Prenatal diagnosis in families with known mutation(s)
  • Capillary Sequencing

Ordering

130
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81252x1
Yes
Yes
  • 757.39 Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
* For price inquiries please email zebras@genedx.com

References

  1. Richard et al. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey Syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol, 123(5):856-63, 2004
  2. Maestrini et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel\\\\\\\\\\\\\\\'s syndrome) in three unrelated families. Hum. Mol. Genet. 8: 1237–1243, 1999
  3. G. Richard. Connexin Disorders of the Skin. Clinics in Dermatology, 23:23-32, 2005