Papillon-Lefevre Syndrome

What is Papillon-Lefevre syndrome?

Papillon Lefevre syndrome is a disorder characterized by excessive production of keratin on the palms and soles in combination with severe periodontal destruction. The condition leads extensive damage to the periodontium (the tissue that surround and support the teeth) and early loss of milkand permanent dentition. The disease is very rare and manifests at an early age of 1 to 5 years. It is also known as’ palmoplantar keratoderma with periodontitis’.

What are the symptoms of Papillon-Lefevre syndrome?

The major symptoms of Papillon Lefevre syndrome are classified into three types :

  • Hyperkeratosis of soles and palms
  • Early periodontal destruction
  • Intracranial calcifications

The skin lesions exhibiting increased production of keratin manifest between first to fourth year of age. The lesions are well demarcated patches of hyper keratinized tissue present on palms and soles of both sides. The skin affected becomes dry, flaky and scaly in appearance. The lesions tend to worsen on exposure to cold and in winters.

The eruption of the milk teeth are also affected in the majority of the cases of Papillon Lefevre syndrome. On eruption of the first tooth in the oral cavity symptoms such as swollen gingiva, periodontal pockets, fetid odor and migration of the tooth is experienced. The symptoms mimic juvenile periodontitis. The tooth becomes mobile and sheds painlessly. In most of the cases the entire deciduous dentition is exfoliated by the age of four years.

Due to early loss of deciduous dentition the permanent teeth erupt early. Similar symptoms indicating periodontal destruction appear after the permanent teeth erupt. The destruction progresses in cyclic manner and generally all teeth are lost by the age of 14 years. Intracranial calcification is another finding associated with Papillon Lefevre syndrome. Low hemoglobin levels and increased susceptibility to infections is also present.

What causes Papillon-Lefevre syndrome?

Papillon Lefevre syndrome is an extremely rare condition. The exact cause of Papillon Lefevre syndrome is not clearly known. Papillon Lefevre syndrome is a certain genetic predisposition. The disorder is inherited by an autosomal recessive trait leading to gene mutation. The syndrome may be seen in families but generally the parents are asymptomatic carriers of the gene. Some of the earlier suspected causes of Papillon Lefevre syndrome include vitamin A deficiency. Vitamin A is directly linked to keratin production and the damage to the epithelial cells of the gingiva is caused due to defect in the local vitamin A metabolism.

How is Papillon-Lefevre syndrome treated?

Treatment of Papillon Lefevre syndrome includes medication, periodontal maintenance and prosthodontic care. Vitamin A metabolites known as retinoids are involved in regulation of growth of epithelial cells. These are recommended in the treatment of Papillon Lefevre syndrome to reduce keratinization, as they reduce total keratin content of the cells producing keratin.

If the disease is diagnosed in early stages, proper periodontal therapy and plaque control can lessen the symptoms of periodontal destruction. Antibiotics are also prescribed to combat periodontal pathogens. Prosthodontic care is required after loss of single or multiple teeth. The missing teeth are replaced with removable partial denture or complete dentures. Implants can also be considered as a treatment options depending on the extent of periodontal destruction.

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