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Improvement of hereditary palmoplantar keratoderma with oral trametinib

Hannah Song1,2, Fiatsogbe Dzuali1,2, Susan N Chi3

  • 1Harvard Medical School, Boston, Massachusetts.

Pediatric Dermatology
|December 15, 2018
PubMed

Insights

A child with congenital deafness, palmoplantar keratoderma (PPK), and hypothalamic glioma experienced significant PPK improvement with trametinib cancer therapy. The condition worsened upon drug withdrawal, suggesting trametinib

Area of Science:

  • Oncology
  • Dermatology
  • Genetics

Background:

  • Palmoplantar keratoderma (PPK) is a group of genetic skin disorders characterized by thickening of the palms and soles.
  • The underlying molecular mechanisms of many PPK forms remain incompletely understood.
  • Hypothalamic glioma is a rare brain tumor.

Observation:

  • A child with congenital deafness, PPK, and hypothalamic glioma received trametinib for cancer treatment.
  • The patient exhibited marked improvement in PPK during trametinib therapy.
  • PPK severity increased upon trametinib withdrawal.

Findings:

  • Trametinib therapy demonstrated a clear correlation with PPK improvement.
  • The temporal relationship between trametinib use and PPK severity suggests a causal link.
  • MAPK signaling pathway may play a role in the pathogenesis of PPK.

Implications:

  • Trametinib may be a potential therapeutic agent for certain forms of PPK.
  • Targeting the MAPK pathway could offer new treatment strategies for PPK.
  • Further research is warranted to explore MEK inhibitors in dermatological conditions.

Keywords:
MEK inhibitorpalmoplantar keratodermatargeted therapytrametinib

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