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Background <p>Congenital melanocytic nevus syndrome is a disorder characterized by postzygotic, mosaic NRAS Proto-Oncogene, GTPase mutations. Clinical manifestations include melanotic skin lesions and, optionally, central nervous system melanosis typically noted during early infancy. Affected individuals have an increased risk of developing malignant melanomas at an early age.</p> Case <p>We report a child with neurocutaneous melanosis due to this syndrome, who had innumerable nevi at birth and diffuse leptomeningeal thickening. He developed increased intracranial pressure at 4&#xa0;weeks of age. The nucleoside analogue azacitidine and the Mitogen-Activated Protein Kinase, Kinase inhibitor trametinib were started at 6&#xa0;weeks of age resulting in rapid reduction of leptomeningeal thickening. At 53&#xa0;months of age, the patient still takes trametinib and has met all developmental milestones. There has been no evidence of melanoma, and he exhibits minimal residual leptomeningeal changes.</p> Conclusion <p>To our best knowledge, this is the first child with this syndrome who has undergone successful therapy to reduce leptomeningeal thickening.</p>

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Efficacy of azacitidine and trametinib against leptomeningeal melanosis associated with congenital melanocytic nevus syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月13日

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  • Lina Raljević,
  • Katalin Komlosi,
  • Ursula Feige,
  • Matthias Eckenweiler,
  • Silke Lassmann,
  • Haroun Bel Hadj Jrad,
  • Martin Werner,
  • Judith Fischer,
  • Cristina Has,
  • Tobias Feuchtinger,
  • Markus Uhl,
  • Charlotte M. Niemeyer,
  • Simone Hettmer

摘要

Background

Congenital melanocytic nevus syndrome is a disorder characterized by postzygotic, mosaic NRAS Proto-Oncogene, GTPase mutations. Clinical manifestations include melanotic skin lesions and, optionally, central nervous system melanosis typically noted during early infancy. Affected individuals have an increased risk of developing malignant melanomas at an early age.

Case

We report a child with neurocutaneous melanosis due to this syndrome, who had innumerable nevi at birth and diffuse leptomeningeal thickening. He developed increased intracranial pressure at 4 weeks of age. The nucleoside analogue azacitidine and the Mitogen-Activated Protein Kinase, Kinase inhibitor trametinib were started at 6 weeks of age resulting in rapid reduction of leptomeningeal thickening. At 53 months of age, the patient still takes trametinib and has met all developmental milestones. There has been no evidence of melanoma, and he exhibits minimal residual leptomeningeal changes.

Conclusion

To our best knowledge, this is the first child with this syndrome who has undergone successful therapy to reduce leptomeningeal thickening.