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 to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.

This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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