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DECLARATIONS
Acknowledgments
The authors thank Dr. Brigitte Roy-Geffroy (Société Française de Dermatologie), Sylvie Dorison, Altéa
Swan, Alain Lecoq [Archives de l'Assistance publique-Hôpitaux de Paris (AP-HP)], Estelle Lambert
(Archives Nationales) for providing historic documents and Prof Iain Chapple (School of Dentistry at the
University of Birmingham, UK) for assistance with translation. The photos shown in Figure 6 are from the
Private Collection of Y. Cukierman.

Authors’ contributions
All the authors contributed to the concept, design, draft and revision of this manuscript.

Availability of data and materials
Not applicable.

Financial support and sponsorship
This work was supported by the « Ministère de l’Enseignement Supérieur et de la Recherche » and the « Ré
gion Centre Val de Loire » (Project PIRANA, 2019-00134916).

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2022.

REFERENCES
1. Toomes C, James J, Wood AJ, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar
keratosis. Nat Genet 1999;23:421-4. DOI PubMed
2. Shawli A, Almaghrabi Y, AlQuhaibi AS, Alghamdi Y, Aboud AM. A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre
Syndrome in a Saudi Patient: A Case Report. Cureus 2020;12:e6546. DOI PubMed PMC
3. Korkmaz B, Caughey GH, Chapple I, et al. Therapeutic targeting of cathepsin C: from pathophysiology to treatment. Pharmacol Ther
2018;190:202-36. DOI PubMed
4. Papillon M, Lefevre P. Two cases of symmetrically familial palmar and plantar hyperkeratosis (Meleda disease) within brother and
sister combined with severe dental alterations in both cases. Bull Soc Fr Dermatol Syphiligr 1924;31:82-7.