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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
Therapeutic targeting of cathepsin C: from pathophysiology to treatment.
Korkmaz B, Caughey GH, Chapple I, Gauthier F, Hirschfeld J, Jenne DE, Kettritz R, Lalmanach G, Lamort AS, Lauritzen C, Łȩgowska M, Lesner A, Marchand-Adam S, McKaig SJ, Moss C, Pedersen J, Roberts H, Schreiber A, Seren S, Thakker NS
Pharmacol Ther 2018 Oct;190:202-236. Epub 2018 May 26 doi: 10.1016/j.pharmthera.2018.05.011. PMID: 29842917

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
Aggressive and acute periodontal diseases.
Albandar JM
Periodontol 2000 2014 Jun;65(1):7-12. doi: 10.1111/prd.12013. PMID: 24738583
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-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
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
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
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

Therapy

The oral microbiome of a family including Papillon-Lefèvre-syndrome patients and clinically healthy members.
Vályi P, Wirth R, Minárovits J, Strang O, Maróti G, Kovács KL
BMC Oral Health 2024 Jan 31;24(1):158. doi: 10.1186/s12903-024-03856-z. PMID: 38297252Free PMC Article
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
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
Aggressive and acute periodontal diseases.
Albandar JM
Periodontol 2000 2014 Jun;65(1):7-12. doi: 10.1111/prd.12013. PMID: 24738583
Retinoids in disorders of keratinization: their use in adults.
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

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
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
Aggressive and acute periodontal diseases.
Albandar JM
Periodontol 2000 2014 Jun;65(1):7-12. doi: 10.1111/prd.12013. PMID: 24738583
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

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
CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome.
Wu Y, Zhao L, Xu C, Wu Y
Oral Dis 2019 Jul;25(5):1394-1402. Epub 2019 Apr 24 doi: 10.1111/odi.13095. PMID: 30908832
Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome.
Ullbro C, El-Samadi S, Boumah C, Al-Yousef N, Wakil S, Twetman S, Alfadley A, Thestrup-Pedersen K, Meyer B
Acta Derm Venereol 2006;86(1):3-7. doi: 10.1080/00015550510011619. PMID: 16585980
Papillon-Lefèvre syndrome with albinism: a review of the literature and report of 2 brothers.
Hattab FN, Amin WM
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005 Dec;100(6):709-16. doi: 10.1016/j.tripleo.2004.08.030. PMID: 16301152
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

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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