open access

https://hdl.handle.net/2115/98052

Oral Statin Therapy in KRT16- and KRT17-Associated Palmoplantar Epidermal Differentiation Disorder (Pachyonychia Congenita)

英語

Atorvastatin

2025-08-12

John Wiley & Sons

Journal of dermatology

52(10)

1608-1611

Palmoplantar epidermal differentiation disorder associated with pachyonychia congenita (pEDD-PC) is a rare autosomal dominant skin disorder caused by pathogenic variants in keratin genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17. While statins have been reported to alleviate symptoms in KRT6A-pEDD-PC, their efficacy in other subtypes remains unclear. We report six adult patients, including four with KRT17 variants and two with KRT16 variants, who underwent off-label oral statin therapy. Statins were administered for at least 6 months following dose stabilization. Although the treatment was well tolerated in most cases, no significant clinical improvement in plantar calluses or pain was observed. All patients discontinued therapy due to insufficient efficacy. Our findings indicate that oral statin therapy may offer limited benefit in KRT16/KRT17-pEDD-PC and suggest the potential importance of early intervention and genotype-specific therapeutic strategies.

学術雑誌論文

Accepted Manuscript

This is the peer reviewed version of the following article: Itamoto, S., Tu, W.-T., Chang, C.-Y., Watanabe, M., Ujiie, H., Hsu, C.-K. and Natsuga, K. (2025), Oral Statin Therapy in KRT16- and KRT17-Associated Palmoplantar Epidermal Differentiation Disorder (Pachyonychia Congenita). J Dermatol, 52: 1608-1611, which has been published in final form at https://doi.org/10.1111/1346-8138.17900. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.

0385-2407