Papillon Lefevre syndrome

Common Name(s)

Papillon Lefevre syndrome

Papillon-Lefevre syndrome (PALS) is a rare genetic disorder that causes thickening of the skin (keratoderma) on the palms of the hands and soles of the feet (palmoplantar), inflammation of the tissues around the teeth (periodontitis), and early (premature) loss of teeth. The skin of the palms and soles will usually have areas (patches) that are dry and scaly. These areas are at risk for infections. Periodontitis may cause shrinkage of the gums. Symptoms usually occur between 1 and 5 years of age. Most children lose their primary teeth by the age of 4 years and their secondary teeth by 14 years.

PALS is caused by changes (mutations) in the CTSC gene and is inherited in an autosomal recessive way, which means a child must have a mutation in both copies of their CTSC gene to have the condition. The diagnosis of PALS is considered in a child with thick skin patches, inflammation of the gums, and the early loss of teeth. Genetic testing is used to confirm the diagnosis. Treatment options include medications to help reduce the risk of infection in the skin and dentures to replace lost teeth. Other treatment options include a bone graft to help save the teeth before they are lost. If your child has been diagnosed with PALS, talk to their doctor about all treatment options. Support groups can provide additional information and connect you with other affected families.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Papillon Lefevre syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Papillon Lefevre syndrome" returned 46 free, full-text research articles on human participants. First 3 results:

Papillon-Lefèvre syndrome.
 

Author(s): Thadeu Santos Silva, Priscila Neri Lacerda, Fernanda Pedreira de Almeida Rêgo, Vitória Regina Pedreira de Almeida Rêgo

Journal: An Bras Dermatol. ;93(5):771-772.

 

Last Updated: 31 Dec 1969

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[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome].
 

Author(s): Chen Yuanjiao, Li Chen-Jun

Journal: Hua Xi Kou Qiang Yi Xue Za Zhi. 2016 Aug;34(4):346-349.

 

This study aims to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS), then further confirm the genetic basis for the phenotype of PLS, and obtain genetic information that can be used as guide in the ...

Last Updated: 31 Dec 1969

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Oro-dental characteristics of three siblings with Papillon-Lefevre syndrome.
 

Author(s): O E Gungor, H Karayilmaz, H Yalcin, M Hatipoğlu

Journal: Niger J Clin Pract. 2017 Feb;20(2):256-260.

 

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder, showing oral and dermatological manifestations in the form of aggressive periodontitis, leading to the premature loss of both primary and permanent teeth at a very young age and palmar-plantar hyperkeratosis. ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Papillon Lefevre syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Papillon-Lefèvre syndrome: case report and review of the literature.
 

Author(s): Shahbaz A Janjua, Amor Khachemoune

Journal:

 

A 15-year-old boy presented with symmetric, well-demarcated, yellowish, keratotic plaques over the skin of his palms and soles extending onto the dorsal surfaces. Well-circumscribed, psoriasiform, erythematous, scaly plaques were also present on the elbows and knees bilaterally along ...

Last Updated: 31 Dec 1969

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