Papillon-Lefevre Syndrome

Alternative Names

  • PALS
  • PLS
  • Keratosis Palmoplantaris with Periodontopathia

Associated Genes

Cathepsin C
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WHO-ICD-10 version:2010

Diseases of the skin and subcutaneous tissue

Other disorders of the skin and subcutaneous tissue

OMIM Number

245000

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q14.2

Description

Papillon-Lefevre syndrome (PLS) is a rare condition that causes psoriasiform hyperkeratosis of the palms and soles (palmar-plantar hyperkeratosis) in association with intense gingivitis with alveolar bone lysis and early loss of baby teeth. It is caused by mutations in the CTSC gene, which encodes a cysteine lysosomal protease belonging to the papain family, called dipeptidyl peptidase I.  

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
245000.1.1JordanMaleYesYes Premature loss of teeth; Palmoplantar...NM_001814.6:c.319-1G>AHomozygousAutosomal, RecessiveHattab and Amin, 2005 Proband
245000.1.2JordanMaleYesYes Premature loss of teeth; Palmoplanta...NM_001814.6:c.319-1G>AHomozygousAutosomal, RecessiveHattab and Amin, 2005 Brother of 245000.1....
245000.1.3JordanFemaleYesYes Premature loss of teeth; Palmoplanta...NM_001814.6:c.319-1G>AHeterozygous, HomozygousAutosomal, RecessiveHattab and Amin, 2005 Sister of 245000.1.1
245000.2.1Saudi ArabiaMaleYesYes Psoriasiform lesion; Palmoplantar hype...NM_001814.4:c.899G>AHomozygousAutosomal, RecessiveAlkhiary et al. 2016 Proband
245000.2.2Saudi ArabiaMaleYesYes Psoriasiform lesion; Palmoplantar hype...NM_001814.4:c.899G>AHomozygousAutosomal, RecessiveAlkhiary et al. 2016 Sibling of 245000.2....
245000.2.3Saudi ArabiaMaleYesYes Psoriasiform lesion; Palmoplantar hyp...NM_001814.4:c.899G>AHomozygousAutosomal, RecessiveAlkhiary et al. 2016 Sibling of 245000.2....
245000.2.4Saudi ArabiaFemaleYesYes Psoriasiform lesion; Palmoplantar h...NM_001814.4:c.899G>AHomozygousAutosomal, RecessiveAlkhiary et al. 2016 Sibling of 245000.2....
245000.3.1Saudi ArabiaUnknown Palmoplantar hyperkeratosis; Generali...NM_001814.4:c.899G>AHomozygousAutosomal, RecessiveZhang et al. 2001 Proband
245000.3.2Saudi ArabiaUnknown Palmoplantar hyperkeratosis ; Generali...NM_001814.4:c.815G>CHomozygousAutosomal, RecessiveZhang et al. 2001 Proband
245000.3.3Saudi ArabiaUnknown Palmoplantar hyperkeratosis ; General...NM_001814.4:c.815G>CHomozygousAutosomal, RecessiveZhang et al. 2001 Proband
245000.3.4Saudi ArabiaUnknown Palmoplantar hyperkeratosis ; Genera...NM_001814.4:c.815G>CHomozygousAutosomal, RecessiveZhang et al. 2001 Proband
245000.3.5Saudi ArabiaUnknown Palmoplantar hyperkeratosis ; Gener...NM_001814.4:c.815G>CHomozygousAutosomal, RecessiveZhang et al. 2001 Proband
245000.4.01JordanFemaleYesYes Palmoplantar hyperkeratosis; Generalize...NM_001814.6:c.890-1G>AHomozygousAutosomal, RecessiveNusier et al. 2002
245000.4.02JordanFemaleYesYes Palmoplantar hyperkeratosis ; Generaliz...NM_001814.6:c.890-1G>AHomozygousAutosomal, RecessiveNusier et al. 2002 Sister of 245000.4.0...
245000.4.03JordanFemaleYesYes Palmoplantar hyperkeratosis ; Generali...NM_001814.6:c.890-1G>AHomozygousAutosomal, RecessiveNusier et al. 2002 Sister of 245000.4.0...
245000.4.04JordanFemaleYesYes Palmoplantar hyperkeratosis ; General...NM_001814.6:c.890-1G>AHomozygousAutosomal, RecessiveNusier et al. 2002 Sister of 245000.4.0...
245000.4.05JordanMaleYesYes Palmoplantar hyperkeratosis ; Generaliz...NM_001814.6:c.890-1G>AHomozygousAutosomal, RecessiveNusier et al. 2002 Second cousin of 245...
245000.5.1EgyptFemaleYesYes Palmoplantar hyperkeratosis; Generaliz...NM_001814.6:c.319-1G>AHomozygousAutosomal, RecessiveHewitt et al. 2004 The patient also had...
245000.6.1LebanonFemaleYesNo Palmoplantar hyperkeratosis ; Gingiviti...NM_001814.4:c.815G>CHomozygousAutosomal, RecessiveKurbat et al. 2009
245000.6.2LebanonFemaleYesNo Palmoplantar hyperkeratosis ; Gingiviti...NM_001814.4:c.815G>CHomozygousAutosomal, RecessiveKurbat et al. 2009 Sibling of 245000.6....
245000.6.3LebanonFemaleYesNo Palmoplantar hyperkeratosis ; Gingiviti...NM_001814.4:c.815G>CHomozygousAutosomal, RecessiveKurbat et al. 2009 Sibling of 245000.6....
245000.G.1Saudi ArabiaUnknown Palmoplantar hyperkeratosis; Generaliz...NM_001814.4:c.899G>AHomozygousAutosomal, RecessiveUllbro et al. 2006 Group of 6 patients
245000.G.2Saudi ArabiaUnknown Palmoplantar hyperkeratosis; Generalize...NM_001814.4:c.815G>CHomozygousAutosomal, RecessiveUllbro et al. 2006 Group of 30 patients

Other Reports

Egypt

El Darouti et al, 1988, reported three patients with Papillon-Lefevre syndrome who showed a remarkable degree of improvement after treatment with an oral retinoid.

Ghaffer et al, 1999, studied 15 patients with Pappilon-Lefevre syndrome from 4 affected families and concluded that specific neutrophil dysfunction appeared to be etiologically involved in the disorder.

Jordan

Hattab et al, 1995, described the clinical, laboratory and radiological features of 4 PLS patients belonging to two consanguineous Jordanian families. 

Lebanon

Abou Chedid et al. (2019) described a 5-year old boy who presented with spontaneous loss of all primary teeth, and palmoplantar hyperkeratosis. He belonged to a multiply consanguineous family, and had two other similarly affected cousins. 

Saudi Arabia

Pareek and Al-Aska, 1986, reported the clinical symptoms of six Saudi siblings with Papillon-Lefevre syndrome. The patients belonged to a consanguineous family from a village near Riyadh where the authors had noticed at least 10 more cases of Papillon Lefèvre syndrome.

Kellum, 1998, described a consanguineous Saudi family, in which four siblings were diagnosed with Lefèvre syndrome. The patients were found to show remarkable improvement in hyperkeratosis following treatment with etretinate. 

Almuneef et al, 2003, described a Saudi male, born to consanguineous parents, with pyogenic liver abscesses and PLS.  They found several other reports of this association and concluded that liver abscess is an important complication of neutrophil dysfunction in Papillon-Lefevre syndrome.

Sudan

Ghandour, 1989, reported two Sudanese children with hyperkeratosis palmoplantaris or Papillon-Lefevre syndrome (PLS).

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