Papilon-Lefèvre Syndrome

What else is it called?

  • PLS 
  • Hyperkeratosis palmoplantaris with periodontosis 
  • Keratosis palmoplantaris with periodontopathia 
  • Palmar-plantar hyperkeratosis and concomitant periodontal destruction 
  • Keratosis palmoplantaris with periodontopathia 
  • Palmoplantar keratoderma with periodontosis 
  • Keratosis palmoplantar – periodontopathy 
  • Papillon-Lefèvre syndrome 
  • Keratosis palmoplantar-periodontopathy syndrome 

Get in touch

Contact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday.

Prefer to email? Our email address is contact@metabolicsupportuk.org.

What causes it?

PLS is caused by mutations (changes) in the CTSC (Cathepsin C) gene. This gene encodes (converts) for the production of the lysosomal protease enzyme also known as the cathepsin C enzyme. The protein is found in various immune cells and certain areas in the body affected by PLS such as epithelial cells that form the protective outer layer of the skin.  

Changes in the CTSC gene can result in the almost complete loss of cathepsin C enzymatic activity in patients with this condition. However, other factors in addition to mutations (changes) in the CTSC gene are necessary for PLS to develop. It is suspected that defects in the immune system, specifically white blood cells are involved in causing this condition. However, more research is needed to fully understand what exactly leads to the symptoms associated with PLS.  

How common is it?

PLS is an extremely rare disorder. It affects males and females in equal numbers and affects all ethnic groups. More than 200 individuals have currently been reported with this disorder. It is estimated to affect 1 to 4 individuals per million in the general population.  

What are the signs and symptoms?

Skin abnormalities may be present at birth or by the age of five. All other symptoms associated with this disorder usually become present between the age of 3 and 5 years.   

Symptoms of PLS may include:  

80%-99% of patients have these symptoms 

  • Abnormal fingernails  
  • Atrophy of alveolar ridges (shrinking of gum ridges) 
  • Gingivitis (inflamed gums)  
  • Palmoplantar hyperkeratosis (thickening of the outer layer of the skin of the palms and soles) 
  • Palmoplantar keratoderma (thickening of palms and soles) 
  • Premature loss of primary teeth (early loss of baby teeth) 
  • Pustule (pimples) 
  • Reduced number of teeth 
  • Severe periodontitis (gum disease)  

30%-79% of patients have these symptoms   

  • Cerebral calcification (abnormal deposits of calcium in the brain)  
  • Chronic furunculosis (boils that occur over a long period of time)  
  • Nail dystrophy (poor nail formation)  
  • Frequent respiratory infections  

5%-29% of patients have these symptoms   

  • Arachnodactyly (long slender fingers) 
  • Generalized hirsutism (excessive hairiness over body) 
  • Hypertrichosis (excessive hair growth) 
  • Hypopigmented skin patches (patchy loss of skin colour)  
  • Liver abscess  
  • Melanoma (skin cancer) 
  • Osteolysis (breakdown of bone)  
  • Sparse body hair  
  • Squamous cell carcinoma (skin cancer) 

How is it diagnosed?

A diagnosis of PLS starts with a clinical evaluation including a detailed patient and family history and identification of characteristic physical symptoms. In most cases, a diagnosis may not be confirmed until there is a sign of inflammation and degeneration of the tissue surrounding and supporting the teeth (usually starts at 3-5 years of age).  

A diagnosis can be made with a urine test, showing the activity of the enzyme cathepsin C. Little or no activity of the enzyme will lead to a diagnosis of the disorder. The diagnosis can be confirmed through molecular genetic testing, detecting mutations in the CTSC gene.  

 

Can it be treated?

Treatment of this disorder is based on specific symptoms that are present in each individual. Genetic counselling is recommended for the patient and their family. Psychosocial support is also recommended for the whole family.  

Healthcare professionals may monitor affected individuals to help prevent infection or ensure for early detection. Antibiotics may be given if a gum infection occurs. It is recommended for all individuals with PLS to practice proper oral hygiene and use mouth rinses. Lost teeth may be replaced with dental implants.  

Do my family need to be tested?

PLS is an inherited condition. Humans have chromosomes made up of DNA. Genes are pieces of DNA that carry the genetic information. Each chromosome may have several thousand genes. We inherit chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instructions that determine a person’s characteristics, which are a combination of the parents. 

The pattern of inheritance of PLS is autosomal recessive. This means that carriers of the condition do not have the disorder because the other gene of this pair is working normally. Parents of children with PLS are carriers.  

When both parents are carriers, the risk to the baby in each pregnancy is  

  • 25% chance (1 in 4) of developing the condition 
  • 50% chance (1 in 2) for the baby to be a carrier of the condition 
  • 25% chance (1 in 4) for the baby to have two working genes and neither have the condition nor be a carrier 

Genetic counselling can be requested to get a full explanation.  

Relevant Organisations

References

References are available on request. Please contact Helen Morris by phoning 0845 241 2173 or emailing helen@metabolicsupportuk.org [Resource Library No: AAP002]. 

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