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Erythrokeratodermia variabilis.

Bruce E Strober1

  • 1Ronald O. Perelman Department of Dermatology, New York University, USA.

Dermatology Online Journal
|November 5, 2003
PubMed
Summary

Erythrokeratodermia variabilis, a genetic skin disorder, presents as red patches and thick plaques. This genodermatosis is linked to mutations in the connexin 31 gene.

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Area of Science:

  • Dermatology
  • Genetics
  • Molecular Biology

Background:

  • Erythrokeratodermia variabilis (EKV) is a rare genodermatosis.
  • It is characterized by transient erythematous patches and persistent hyperkeratotic plaques.

Observation:

  • A 47-year-old woman presented with EKV affecting her upper extremities.
  • The patient's family history revealed similar cutaneous conditions in siblings and her daughter.
  • Histopathologic analysis confirmed the diagnosis.

Findings:

  • The patient's clinical presentation and history were consistent with EKV.
  • EKV is associated with mutations in the gene encoding connexin 31 (GJB3).
  • Connexin 31 is a gap-junction protein crucial for skin homeostasis.

Implications:

  • Understanding the genetic basis of EKV aids in diagnosis and genetic counseling.
  • Further research into connexin 31 function may reveal therapeutic targets.
  • This case highlights the hereditary nature and clinical variability of EKV.

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