Biallelic deficiencies of FDPS are required for skin lesion formation in FDPS -associated porokeratosis

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ID: 332130
2026
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Abstract
By evaluating 13 lesional samples from five individuals with porokeratosis harboring germline FDPS variants, we identified secondary somatic alterations in every lesion. These findings provide definitive evidence for a "two-hit" model, emphasizing that biallelic deficiency is required for lesion formation.
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openalex_W7221527408 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Sonoko Saito, Ai Yoshioka, Hisato Suzuki, Yuki Saito, Showbu Sato, Satomi Aoki, Noriko Ono, Yoshihiro Ito, Keisuke Kataoka, Tadashi Kaname, Kazuhiko Nakabayashi, Akiharu Kubo
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Journal the british journal of dermatology
Year 2026
DOI
10.1093/bjd/ljag446
URL
https://doi.org/10.1093/bjd/ljag446
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