Giant Congenital Melanocytic Nevus Treated With Trametinib

Pediatrics. 2019 Mar;143(3):e20182469. doi: 10.1542/peds.2018-2469.


Giant congenital nevi are melanocytic proliferations of the skin that may be complicated by melanoma, neurocutaneous melanocytosis, pain, pruritus, and disfigurement. Current treatment options include surgical resection and medical management of associated symptoms. There is limited efficacy in these modalities. No effective pharmacologic treatments are available for the treatment of these lesions. We present the case of a 7-year-old girl with a giant congenital melanocytic nevus that had an AKAP9-BRAF fusion and was treated with trametinib, which resulted in rapid resolution of the patient's lifelong, intractable pain and pruritus as well as dramatic improvement in the extent of her nevus.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Agents / therapeutic use*
  • Child
  • Female
  • Humans
  • Nevus, Pigmented / diagnostic imaging*
  • Nevus, Pigmented / drug therapy*
  • Nevus, Pigmented / surgery
  • Pyridones / therapeutic use*
  • Pyrimidinones / therapeutic use*
  • Skin Neoplasms / diagnostic imaging*
  • Skin Neoplasms / drug therapy*
  • Skin Neoplasms / surgery
  • Treatment Outcome


  • Antineoplastic Agents
  • Pyridones
  • Pyrimidinones
  • trametinib

Supplementary concepts

  • Melanocytic nevus syndrome, congenital