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

Author:

Haller Courtney N.1,Leszczynska Maria A.2ORCID,Brichta Lars3ORCID,Maier Esther4,Riddington Ian M.5,Choate Keith A.678,Levy Moise L.1910

Affiliation:

1. Department of Internal Medicine, Division of Dermatology, Dell Medical School University of Texas Austin Texas USA

2. Department of Dermatology Baylor Scott and White Temple Texas USA

3. Chemistry Rx Compounding and Specialty Pharmacy Folcroft Pennsylvania USA

4. Drug Dynamics Institute, College of Pharmacy The University of Texas Austin Texas USA

5. Department of Chemistry The University of Texas Austin Texas USA

6. Department of Dermatology Yale University School of Medicine New Haven Connecticut USA

7. Department of Pathology Yale University School of Medicine New Haven Connecticut USA

8. Department of Genetics Yale University School of Medicine New Haven Connecticut USA

9. Department of Pediatrics, Division of Pediatric Dermatology, Dell Medical School University of Texas Austin Texas USA

10. Dell Children's Medical Center Austin Texas USA

Abstract

AbstractWe 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.

Funder

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. HappleR.Epidermal Nevus Syndromes. NORD Rare Disease Database.2011Accessed September 4 2022.https://Rarediseases.Org/Rare-Diseases/Epidermal-Nevus-Syndromes/

2. Population pharmacokinetics and exposure–response of trametinib, a MEK inhibitor, in patients with BRAF V600 mutation-positive melanoma

3. Sebaceous nevus of Jadassohn: review and clinical-surgical approach

4. Therapeutic effects of CO2 laser therapy of linear nevus sebaceous in the course of the Schimmelpenning‐Feuerstein‐Mims syndrome;Kiedrowicz M;Adv Dermatol Allergol Dermatol Alergol,2013

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