Case Report: Successful topical simvastatin therapy in a 2-year-old girl with keratin 16-associated palmoplantar epidermal differentiation disorder - Takeaways - MDSpire

Case Report: Successful topical simvastatin therapy in a 2-year-old girl with keratin 16-associated palmoplantar epidermal differentiation disorder

  • By

  • Qingmei Zhong

  • Ying Zhang

  • Zhen Feng

  • Jinyan Zhang

  • Borui Chen

  • July 2, 2026

  • 0 min

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  • 1

    A 2-year-old girl with palmoplantar hyperkeratosis and nail dystrophy was diagnosed with a keratin 16-related disorder through genetic analysis.

  • 2

    Whole-exome sequencing revealed a hemizygous multi-exon deletion in keratin 16, classified as likely pathogenic by the American College of Medical Genetics.

  • 3

    Topical application of 2.5% simvastatin/cholesterol cream for 11 weeks resulted in significant improvement in the patient's skin and nail conditions.

  • 4

    No local or systemic adverse effects were reported during the treatment with topical simvastatin, indicating its safety for young children.

  • 5

    This case suggests that topical simvastatin may be a promising therapy for keratin 16-associated palmoplantar epidermal differentiation disorder.

Original Source(s)

Case Report: Successful topical simvastatin therapy in a 2-year-old girl with keratin 16-associated palmoplantar epidermal differentiation disorder

  • by Qingmei Zhong, Ying Zhang, Zhen Feng, Jinyan Zhang, Borui Chen

  • July 2, 2026

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