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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 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.
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

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
Digital prosthodontic management of a young patient with Papillon-Lefèvre syndrome: A clinical report.
Millet C, Virard F, Lienhart G, Ducret M
J Prosthet Dent 2020 Apr;123(4):548-552. Epub 2019 Jul 26 doi: 10.1016/j.prosdent.2019.03.013. PMID: 31353110
Early diagnosis and treatment options for the periodontal problems in Papillon-Lefèvre syndrome: a literature review.
Ashri NY
J Int Acad Periodontol 2008 Jul;10(3):81-6. PMID: 18714933

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
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.
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
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
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

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
Early diagnosis and treatment options for the periodontal problems in Papillon-Lefèvre syndrome: a literature review.
Ashri NY
J Int Acad Periodontol 2008 Jul;10(3):81-6. PMID: 18714933
Combined mechanical and antibiotic periodontal therapy in a case of Papillon-Lefèvre syndrome.
Eickholz P, Kugel B, Pohl S, Näher H, Staehle HJ
J Periodontol 2001 Apr;72(4):542-9. doi: 10.1902/jop.2001.72.4.542. PMID: 11338309
Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefèvre syndrome. A report of 4 cases.
Rüdiger S, Petersilka G, Flemmig TF
J Clin Periodontol 1999 Dec;26(12):847-54. PMID: 10599914
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

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
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
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
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-Lefèvre syndrome.
Posteraro AF
J Ala Dent Assoc 1992 Summer;76(3):16-9. PMID: 1452914
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

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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