Erythrokeratoderma Variablis
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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