Topical trametinib for epidermal and sebaceous nevi in a child with Schimmelpenning-Feuerstein-Mims syndrome

Pediatr Dermatol. 2024 May-Jun;41(3):523-525. doi: 10.1111/pde.15523. Epub 2024 Jan 25.

Abstract

We present the case of a 20-month-old girl with Schimmelpenning-Feuerstein-Mims (SFM) syndrome with extensive head, neck, and torso skin involvement successfully managed with topical trametinib. Trametinib interferes downstream of KRAS and HRAS in the MAPK signaling pathway, of which KRAS was implicated in our child's pathogenic variant. Although other dermatologic conditions have shown benefit from oral trametinib, its topical use has not been well reported. Our patient showed benefit from the use of twice-daily topical trametinib, applied to the epidermal and sebaceous nevi over a 16-month period, leading to decreased pruritus and thinning of the plaques.

Keywords: Schimmelpenning‐Feuerstein‐Mims syndrome; administration; dermatology; nevus; pediatrics; pharmaceutical preparations; sebaceous of Jadassohn; skin cream; therapeutics; topical; trametinib.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / drug therapy
  • Administration, Topical
  • Antineoplastic Agents / therapeutic use
  • Eye Abnormalities / drug therapy
  • Failure to Thrive / drug therapy
  • Female
  • Humans
  • Infant
  • Neurocutaneous Syndromes / diagnosis
  • Neurocutaneous Syndromes / drug therapy
  • Nevus / drug therapy
  • Nevus, Sebaceous of Jadassohn / drug therapy
  • Primary Immunodeficiency Diseases / drug therapy
  • Pyridones* / administration & dosage
  • Pyridones* / therapeutic use
  • Pyrimidinones* / administration & dosage
  • Pyrimidinones* / therapeutic use
  • Skin Abnormalities / drug therapy
  • Skin Neoplasms* / drug therapy
  • Skin Neoplasms* / pathology

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