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Cobb syndrome effectively treated with trametinib.

Yi Sun1, Xitao Yang1, Xindong Fan1

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Cobb syndrome, a rare neurocutaneous disease, is linked to KRAS mutations in severe cases. MEK inhibitor trametinib shows therapeutic potential for these life-threatening conditions.

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Area of Science:

  • Neurocutaneous diseases
  • Vascular anomalies
  • Genetics of rare diseases

Background:

  • Cobb syndrome is a rare neurocutaneous disease defined by vascular anomalies affecting the skin and spinal cord within the same metamere.
  • Neurological symptoms like pain, monoparesis, headache, scoliosis, and motor deficits are common initial presentations.

Observation:

  • Two patients with severe Cobb syndrome were identified.
  • These patients harbored somatic mutations in the KRAS gene.

Findings:

  • Somatic KRAS mutations were found in two patients with severe Cobb syndrome.
  • Treatment with the MEK inhibitor trametinib was administered to these patients.

Implications:

  • Trametinib shows potential as a therapeutic option for life-threatening Cobb syndrome.
  • This finding offers hope for patients with currently incurable Cobb syndrome.
  • Targeting KRAS pathway may be a viable strategy for severe Cobb syndrome.