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- Title
Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon–Lefèvre syndrome.
- Authors
Sakai, Akari; Shinkuma, Satoru; Miura, Nobuaki; Deguchi, Tokiko; Oginezawa, Mahoko; Nakajima, Mami; Katsumi, Tatsuya; Hayashi, Ryota; Abe, Riichiro
- Abstract
This article discusses a case study of a patient with Papillon-Lefèvre syndrome (PLS), a rare genetic disorder characterized by palmoplantar keratosis and severe periodontitis. The study focuses on the possible relationship between seasonal fluctuations in skin lesions and temperature-dependent cathepsin C enzymatic activity. The patient exhibited worse skin lesions in winter and improvement in summer, and had minimal dental complications. The study suggests that the remaining activity of cathepsin C may account for the seasonal fluctuations in skin lesions and minimal dental complications observed in this case. Further research is needed to confirm these findings.
- Subjects
SEASONS; PALMOPLANTAR keratoderma; NONSENSE mutation
- Publication
British Journal of Dermatology, 2024, Vol 190, Issue 2, p272
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1093/bjd/ljad373