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Papillon-Lefèvre syndrome(PALS)

MedGen UID:
45306
•Concept ID:
C0030360
•
Disease or Syndrome
Synonyms: Hyperkeratosis palmoplantaris with periodontosis; Keratoris palmoplantaris with periodontopathia; KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA; Palmar-plantar hyperkeratosis and concomitant periodontal destruction; Palmoplantar keratoderma with periodontosis; PALS; Papillon-Lefevre Disease; Papillon-Lefevre Syndrome
SNOMED CT: Papillon-Lefevre syndrome (40158001); Papillon-Lefèvre syndrome (40158001); Juvenile periodontosis with hyperkeratosis (40158001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): CTSC (11q14.2)
 
Monarch Initiative: MONDO:0009490
OMIM®: 245000
Orphanet: ORPHA678

Definition

Papillion-Lefevre syndrome (PALS) is an autosomal recessive disorder characterized by palmoplantar keratoderma, periodontitis, and premature loss of dentition (summary by Lefevre et al., 2001). [from OMIM]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
•Concept ID:
C0022596
•
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
See: Feature record | Search on this feature
Choroid plexus calcification
MedGen UID:
354924
•Concept ID:
C1863184
•
Pathologic Function
The presence of calcium deposition in the choroid plexus.
See: Feature record | Search on this feature
Severe periodontitis
MedGen UID:
871390
•Concept ID:
C4025886
•
Disease or Syndrome
A severe form of periodontitis.
See: Feature record | Search on this feature
Premature loss of teeth
MedGen UID:
66678
•Concept ID:
C0232513
•
Finding
Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
See: Feature record | Search on this feature
Atrophy of alveolar ridges
MedGen UID:
343399
•Concept ID:
C1855642
•
Finding
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPapillon-Lefèvre syndrome
Follow this link to review classifications for Papillon-Lefèvre syndrome in Orphanet.

Professional guidelines

PubMed

Recent developments in the diagnosis, treatment, and management of Papillon-Lefèvre Syndrome.
Haghgoo R, Mehran M, Banakar M
Evid Based Dent 2024 Mar;25(1):3-5. Epub 2023 Sep 7 doi: 10.1038/s41432-023-00932-1. PMID: 37679449
Papillon-Lefèvre syndrome: Oral aspects and treatment.
Giannetti L, Apponi R, Dello Diago AM, Jafferany M, Goldust M, Sadoughifar R
Dermatol Ther 2020 May;33(3):e13336. Epub 2020 Apr 9 doi: 10.1111/dth.13336. PMID: 32222110
Periodontal manifestations of systemic diseases and developmental and acquired conditions: Consensus report of workgroup 3 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Jepsen S, Caton JG, Albandar JM, Bissada NF, Bouchard P, Cortellini P, Demirel K, de Sanctis M, Ercoli C, Fan J, Geurs NC, Hughes FJ, Jin L, Kantarci A, Lalla E, Madianos PN, Matthews D, McGuire MK, Mills MP, Preshaw PM, Reynolds MA, Sculean A, Susin C, West NX, Yamazaki K
J Clin Periodontol 2018 Jun;45 Suppl 20:S219-S229. doi: 10.1111/jcpe.12951. PMID: 29926500

Recent clinical studies

Etiology

Periodontal manifestations of systemic diseases and developmental and acquired conditions: Consensus report of workgroup 3 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Jepsen S, Caton JG, Albandar JM, Bissada NF, Bouchard P, Cortellini P, Demirel K, de Sanctis M, Ercoli C, Fan J, Geurs NC, Hughes FJ, Jin L, Kantarci A, Lalla E, Madianos PN, Matthews D, McGuire MK, Mills MP, Preshaw PM, Reynolds MA, Sculean A, Susin C, West NX, Yamazaki K
J Periodontol 2018 Jun;89 Suppl 1:S237-S248. doi: 10.1002/JPER.17-0733. PMID: 29926943
Periodontal manifestations of systemic diseases and developmental and acquired conditions: Consensus report of workgroup 3 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Jepsen S, Caton JG, Albandar JM, Bissada NF, Bouchard P, Cortellini P, Demirel K, de Sanctis M, Ercoli C, Fan J, Geurs NC, Hughes FJ, Jin L, Kantarci A, Lalla E, Madianos PN, Matthews D, McGuire MK, Mills MP, Preshaw PM, Reynolds MA, Sculean A, Susin C, West NX, Yamazaki K
J Clin Periodontol 2018 Jun;45 Suppl 20:S219-S229. doi: 10.1111/jcpe.12951. PMID: 29926500
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Papillon-Lefèvre syndrome.
Mahajan VK, Thakur NS, Sharma NL
Indian Pediatr 2003 Dec;40(12):1197-200. PMID: 14722373
Papillon-Lefèvre syndrome.
Landow RK, Cheung H, Bauer M
Int J Dermatol 1983 Apr;22(3):177-9. doi: 10.1111/j.1365-4362.1983.tb03359.x. PMID: 6222004

Diagnosis

Papillon Lefevre Syndrome.
Benkarroum FZ, Chhoul H
Tunis Med 2019 Jun;97(6):786-787. PMID: 31872409
Periodontal manifestations of systemic diseases and developmental and acquired conditions: Consensus report of workgroup 3 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Jepsen S, Caton JG, Albandar JM, Bissada NF, Bouchard P, Cortellini P, Demirel K, de Sanctis M, Ercoli C, Fan J, Geurs NC, Hughes FJ, Jin L, Kantarci A, Lalla E, Madianos PN, Matthews D, McGuire MK, Mills MP, Preshaw PM, Reynolds MA, Sculean A, Susin C, West NX, Yamazaki K
J Periodontol 2018 Jun;89 Suppl 1:S237-S248. doi: 10.1002/JPER.17-0733. PMID: 29926943
Papillon Lefevre syndrome.
Shah KM, Karagir A, Koppikar R, Adaki S
BMJ Case Rep 2013 Apr 3;2013 doi: 10.1136/bcr-2013-008989. PMID: 23559660Free PMC Article
Papillon-Lefèvre syndrome.
Hart TC, Shapira L
Periodontol 2000 1994 Oct;6:88-100. doi: 10.1111/j.1600-0757.1994.tb00029.x. PMID: 9673173
Papillon-Lefèvre syndrome.
Landow RK, Cheung H, Bauer M
Int J Dermatol 1983 Apr;22(3):177-9. doi: 10.1111/j.1365-4362.1983.tb03359.x. PMID: 6222004

Therapy

Lung Protection by Cathepsin C Inhibition: A New Hope for COVID-19 and ARDS?
Korkmaz B, Lesner A, Marchand-Adam S, Moss C, Jenne DE
J Med Chem 2020 Nov 25;63(22):13258-13265. Epub 2020 Aug 7 doi: 10.1021/acs.jmedchem.0c00776. PMID: 32692176
Papillon Lefevre Syndrome and footsteps of mycobacterium tuberculosis.
Zandieh F, Mirsaed Ghazi B, Izadi A, Gharegozlu M, Aghajani M, Sheikh M
Iran J Allergy Asthma Immunol 2014 Aug;13(4):286-9. PMID: 24659165
Papillon Lefevre syndrome.
Dhadke SV, Kulkarni PM, Dhadke VN, Deshpande NS, Wattamwar PR
J Assoc Physicians India 2006 Mar;54:246-7. PMID: 16800355
Psoriasiform plaques and periodontal infection--quiz case. Diagnosis: Papillon-Lefèvre syndrome.
Georgala S, Befon A, Georgala C
Arch Dermatol 2005 Jun;141(6):779. doi: 10.1001/archderm.141.6.779-a. PMID: 15967931
Prevention of bacterial endocarditis in localised juvenile periodontitis and Papillon-Lefevre syndrome patients.
Yusof ZA
Dent J Malays 1988 Nov;10(2):31-5. PMID: 2978721

Prognosis

Periodontal manifestations of systemic diseases and developmental and acquired conditions: Consensus report of workgroup 3 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Jepsen S, Caton JG, Albandar JM, Bissada NF, Bouchard P, Cortellini P, Demirel K, de Sanctis M, Ercoli C, Fan J, Geurs NC, Hughes FJ, Jin L, Kantarci A, Lalla E, Madianos PN, Matthews D, McGuire MK, Mills MP, Preshaw PM, Reynolds MA, Sculean A, Susin C, West NX, Yamazaki K
J Periodontol 2018 Jun;89 Suppl 1:S237-S248. doi: 10.1002/JPER.17-0733. PMID: 29926943
Periodontal manifestations of systemic diseases and developmental and acquired conditions: Consensus report of workgroup 3 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Jepsen S, Caton JG, Albandar JM, Bissada NF, Bouchard P, Cortellini P, Demirel K, de Sanctis M, Ercoli C, Fan J, Geurs NC, Hughes FJ, Jin L, Kantarci A, Lalla E, Madianos PN, Matthews D, McGuire MK, Mills MP, Preshaw PM, Reynolds MA, Sculean A, Susin C, West NX, Yamazaki K
J Clin Periodontol 2018 Jun;45 Suppl 20:S219-S229. doi: 10.1111/jcpe.12951. PMID: 29926500
Inherited diseases caused by mutations in cathepsin protease genes.
Ketterer S, Gomez-Auli A, Hillebrand LE, Petrera A, Ketscher A, Reinheckel T
FEBS J 2017 May;284(10):1437-1454. Epub 2017 Jan 12 doi: 10.1111/febs.13980. PMID: 27926992
Eponym: Papillon-Lefevre syndrome.
Dalgıc B, Bukulmez A, Sarı S
Eur J Pediatr 2011 Jun;170(6):689-91. Epub 2010 Dec 17 doi: 10.1007/s00431-010-1367-4. PMID: 21165749
Papillon-Lefèvre syndrome.
Mahajan VK, Thakur NS, Sharma NL
Indian Pediatr 2003 Dec;40(12):1197-200. PMID: 14722373

Clinical prediction guides

Prolonged pharmacological inhibition of cathepsin C results in elimination of neutrophil serine proteases.
Guarino C, Hamon Y, Croix C, Lamort AS, Dallet-Choisy S, Marchand-Adam S, Lesner A, Baranek T, Viaud-Massuard MC, Lauritzen C, Pedersen J, Heuzé-Vourc'h N, Si-Tahar M, Fıratlı E, Jenne DE, Gauthier F, Horwitz MS, Borregaard N, Korkmaz B
Biochem Pharmacol 2017 May 1;131:52-67. Epub 2017 Feb 11 doi: 10.1016/j.bcp.2017.02.009. PMID: 28193451
Low-dose acitretin in Papillon-Lefèvre syndrome: treatment and 1-year follow-up.
Sarma N, Ghosh C, Kar S, Bazmi BA
Dermatol Ther 2015 Jan-Feb;28(1):28-31. Epub 2014 Oct 14 doi: 10.1111/dth.12177. PMID: 25313946
Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
Nakajima K, Nakano H, Takiyoshi N, Rokunohe A, Ikenaga S, Aizu T, Kaneko T, Mitsuhashi Y, Sawamura D
Dermatology 2008;217(1):58-62. Epub 2008 Apr 9 doi: 10.1159/000124340. PMID: 18401176
Papillon-Lefevre syndrome.
Verma KC, Chaddha MK, Joshi RK
Int J Dermatol 1979 Mar;18(2):146-9. doi: 10.1111/j.1365-4362.1979.tb04493.x. PMID: 154478
Pipillon-Lefèvre syndrome: report of two familial cases.
Bravo-Piris J, Villaron LG, Martinez C, Garcia-Perez A
Dermatologica 1976;152(3):168-76. doi: 10.1159/000251244. PMID: 133038

Recent systematic reviews

Skeletal indicators of pathology in the context of early tooth loss in children: A systematic literature review.
Ribeiro A, Decaup PH, Andriantavy M, Couture C, Garot E
Int J Paleopathol 2024 Sep;46:37-49. Epub 2024 Jul 18 doi: 10.1016/j.ijpp.2024.07.001. PMID: 39029336
Survival Rates of Dental Implants in Patients with Papillon-Lefévre Syndrome: A Systematic Review.
Nassani MZ, Al-Maweri SA, Veeraganta SK, Al-Shamiri HM, Alaizari NA, Najeeb S
J Contemp Dent Pract 2021 Jan 1;22(1):93-100. PMID: 34002717

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