To report the effectiveness of topical simvastatin in treating a 2-year-old girl with keratin 16-related palmoplantar epidermal differentiation disorder.
Approach:
Patient Presentation: A 2-year-old girl presented with palmoplantar hyperkeratosis and nail dystrophy, with a history of symptoms since 1 month of age.
Genetic Analysis: Whole-exome sequencing revealed a hemizygous multi-exon deletion in keratin 16, confirmed by high-throughput sequencing.
Treatment: The patient was treated with topical 2.5% simvastatin/cholesterol cream applied twice daily for 11 weeks.
Key Findings:
Substantial improvement in plantar hyperkeratosis and resolution of painful fissures were observed.
Nail morphology showed visible improvement.
No local or systemic adverse effects were reported.
Interpretation:
Topical simvastatin may be an effective and well-tolerated therapy for keratin 16-associated palmoplantar epidermal differentiation disorder in young children.
Limitations:
The study is based on a single case report, limiting generalizability.
Long-term efficacy and safety of topical simvastatin remain to be established.
Conclusion:
This case provides preliminary evidence for the potential of topical simvastatin in treating this genetic disorder.
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