Erythrokeratoderma Variablis (EKV)

Other names: keratosis rubra figurata; Mendes da Costa disease; Giroux-Barbeau syndrome;EKV

OMIM: 133200

Inheritance: autosomal dominant

Incidence: rare

Key findings:                        
  • skin: discrete red, thickened plaques with tightly adherent, yellow-brown, small scales; may be localized or widespread but do not move; separate red patches without scale are transient
Associated findings:                        
  • neurologic: progressive ataxia beginning in the fifth decade - only in the Giroux-Barbeau syndrome (which has the skin findings of EKV)
Age at first appearance: birth or within one year

Long-term course: scaly plaques change little over time; red patches vary in intensity, pattern and distribution and may be induced by environmental or emotional changes

Diagnostic tests: analysis of cellular DNA

Abnormal gene: connexin 31

  Meet Trey, Addison, and JoElla  
Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other.


« Back to Previous Page