Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon–Lefèvre syndrome-Reference-Cited by-同舟云学术

Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon–Lefèvre syndrome

Published:2023-09-27 Issue:2 Volume:190 Page:272-274
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Sakai Akari¹,Shinkuma Satoru¹²^ORCID,Miura Nobuaki³⁴^ORCID,Deguchi Tokiko¹^ORCID,Oginezawa Mahoko¹,Nakajima Mami¹,Katsumi Tatsuya¹,Hayashi Ryota¹^ORCID,Abe Riichiro¹^ORCID

Affiliation:

1. Divisions of Dermatology

2. Department of Dermatology, Nara Medical University , Kashihara , Japan

3. Bioinformatics , Niigata University Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-Dori, Chuo-Ku, Niigata , Japan

4. Institute for Glyco-core Research (iGCORE), Nagoya University , Furo-cho, Chikusa-ku, Nagoya , Japan

Abstract

Our patient with Papillon–Lefèvre syndrome with a novel p.G430V and recurrent p.G301S missense mutation showing aggravation of skin lesions in wintertime. A temperature-dependent cathepsin C enzymatic activity study indicates a possible association between seasonal fluctuations, minimal dental involvement and temperature.

Funder

Niigata University Graduate School of Medical and Dental Sciences

JSPS KAKENHI

Maruho Takagi Dermatology Foundation

Naito Foundation

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/bjd/advance-article-pdf/doi/10.1093/bjd/ljad373/52960836/ljad373.pdf

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4. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis;Toomes;Nat Genet,1999

5. Papillon–Lefèvre syndrome: impact of cathepsin C activities on the phenotypic expression;Takiyoshi;Hirosaki Med J,2013