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

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Clinicians seeking diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis

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