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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).
 
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 hyperkeratosis
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.
Choroid plexus calcification
MedGen UID:
354924
Concept ID:
C1863184
Pathologic Function
The presence of calcium deposition in the choroid plexus.
Severe periodontitis
MedGen UID:
871390
Concept ID:
C4025886
Disease or Syndrome
A severe form of periodontitis.
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.
Atrophy of alveolar ridges
MedGen UID:
343399
Concept ID:
C1855642
Finding

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

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
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
Ashri NY
J Int Acad Periodontol 2008 Jul;10(3):81-6. PMID: 18714933

Recent clinical studies

Etiology

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
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
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
Mahajan VK, Thakur NS, Sharma NL
Indian Pediatr 2003 Dec;40(12):1197-200. PMID: 14722373
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

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
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
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
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
Hart TC, Shapira L
Periodontol 2000 1994 Oct;6:88-100. doi: 10.1111/j.1600-0757.1994.tb00029.x. PMID: 9673173

Therapy

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
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
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
Ashri NY
J Int Acad Periodontol 2008 Jul;10(3):81-6. PMID: 18714933
Dhadke SV, Kulkarni PM, Dhadke VN, Deshpande NS, Wattamwar PR
J Assoc Physicians India 2006 Mar;54:246-7. PMID: 16800355

Prognosis

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
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
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
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
Mahajan VK, Thakur NS, Sharma NL
Indian Pediatr 2003 Dec;40(12):1197-200. PMID: 14722373

Clinical prediction guides

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
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
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
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
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

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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