U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Show allHide all

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
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
Cephalometric findings in patients with Papillon-Lefèvre syndrome.
Bindayel NA, Ullbro C, Suri L, Al-Farra E
Am J Orthod Dentofacial Orthop 2008 Jul;134(1):138-44. doi: 10.1016/j.ajodo.2008.01.002. PMID: 18617113
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
Multiple cerebral abscesses in Papillon-Lefèvre syndrome.
Kanthimathinathan HK, Browne F, Ramirez R, McKaig S, Debelle G, Martin J, Chapple IL, Kay A, Moss C
Childs Nerv Syst 2013 Aug;29(8):1227-9. Epub 2013 May 18 doi: 10.1007/s00381-013-2152-2. PMID: 23686359
Renal abscess in Papillion-Lefèvre syndrome.
Morgan RD, Hannon E, Lakhoo K
Pediatr Surg Int 2011 Dec;27(12):1381-3. Epub 2011 May 19 doi: 10.1007/s00383-011-2931-3. PMID: 21594717
Papillon-lefevre syndrome with liver abscess.
Dhanawade SS, Shah SD, Kakade GM
Indian Pediatr 2009 Aug;46(8):723-5. PMID: 19717864
Papillon Lefevre syndrome.
Dhadke SV, Kulkarni PM, Dhadke VN, Deshpande NS, Wattamwar PR
J Assoc Physicians India 2006 Mar;54:246-7. PMID: 16800355

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
Renal abscess in Papillion-Lefèvre syndrome.
Morgan RD, Hannon E, Lakhoo K
Pediatr Surg Int 2011 Dec;27(12):1381-3. Epub 2011 May 19 doi: 10.1007/s00383-011-2931-3. PMID: 21594717
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
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
Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21.
Hart TC, Bowden DW, Ghaffar KA, Wang W, Cutler CW, Cebeci I, Efeoglu A, Firatli E
Am J Med Genet 1998 Sep 1;79(2):134-9. doi: 10.1002/(sici)1096-8628(19980901)79:2<134::aid-ajmg9>3.0.co;2-q. PMID: 9741471
Papillon-Lefèvre syndrome. Analysis of peripheral blood lymphocyte subsets.
Firatli E, Gürel N, Efeoğlu A
J Clin Periodontol 1996 Sep;23(9):823-5. doi: 10.1111/j.1600-051x.1996.tb00618.x. PMID: 8891932
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...