Papillon–Lefèvre syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Papillon–Lefèvre syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Papillon–Lefèvre syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Palmoplantar keratoderma with periodontitis | |||
| field = [[Dermatology]], [[Dentistry]], [[Genetics]] | |||
| symptoms = [[Palmoplantar keratoderma]], [[periodontitis]], [[hyperkeratosis]] | |||
| complications = [[Tooth loss]], [[skin infections]] | |||
| onset = Early childhood | |||
| duration = Lifelong | |||
| causes = Mutations in the [[CTSC]] gene | |||
| risks = Consanguinity | |||
| diagnosis = Clinical evaluation, genetic testing | |||
| differential = [[Haim–Munk syndrome]], [[Chediak–Higashi syndrome]] | |||
| treatment = [[Retinoids]], [[antibiotics]], [[dental care]] | |||
| prognosis = Variable, depends on management | |||
| frequency = Rare | |||
}} | |||
'''Papillon–Lefèvre syndrome''' (PLS) is a rare [[genetic disorder]] characterized by severe [[periodontitis]] leading to premature loss of both primary and permanent teeth, and [[hyperkeratosis]] of the palms and soles. It is caused by mutations in the [[cathepsin C]] gene. | '''Papillon–Lefèvre syndrome''' (PLS) is a rare [[genetic disorder]] characterized by severe [[periodontitis]] leading to premature loss of both primary and permanent teeth, and [[hyperkeratosis]] of the palms and soles. It is caused by mutations in the [[cathepsin C]] gene. | ||
== Symptoms == | == Symptoms == | ||
The primary symptoms of Papillon–Lefèvre syndrome include: | The primary symptoms of Papillon–Lefèvre syndrome include: | ||
* [[Periodontitis]]: This is often the first sign of PLS, usually appearing between the ages of 1 and 4. It leads to inflammation of the gums and eventual loss of teeth. | * [[Periodontitis]]: This is often the first sign of PLS, usually appearing between the ages of 1 and 4. It leads to inflammation of the gums and eventual loss of teeth. | ||
* [[Hyperkeratosis]]: This involves thickening of the skin on the palms of the hands and soles of the feet. It typically develops during the first few years of life. | * [[Hyperkeratosis]]: This involves thickening of the skin on the palms of the hands and soles of the feet. It typically develops during the first few years of life. | ||
== Causes == | == Causes == | ||
Papillon–Lefèvre syndrome is caused by mutations in the [[cathepsin C]] gene. This gene provides instructions for making a protein that is involved in the immune system. Mutations in this gene lead to a reduction in the activity of the cathepsin C protein, which impairs the immune system's ability to fight off bacteria in the mouth, leading to periodontitis. | Papillon–Lefèvre syndrome is caused by mutations in the [[cathepsin C]] gene. This gene provides instructions for making a protein that is involved in the immune system. Mutations in this gene lead to a reduction in the activity of the cathepsin C protein, which impairs the immune system's ability to fight off bacteria in the mouth, leading to periodontitis. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Papillon–Lefèvre syndrome is based on the clinical symptoms, particularly the presence of severe periodontitis and hyperkeratosis. Genetic testing can confirm a diagnosis by identifying mutations in the cathepsin C gene. | Diagnosis of Papillon–Lefèvre syndrome is based on the clinical symptoms, particularly the presence of severe periodontitis and hyperkeratosis. Genetic testing can confirm a diagnosis by identifying mutations in the cathepsin C gene. | ||
== Treatment == | == Treatment == | ||
Treatment for Papillon–Lefèvre syndrome primarily involves managing the symptoms. This may include: | Treatment for Papillon–Lefèvre syndrome primarily involves managing the symptoms. This may include: | ||
| Line 17: | Line 32: | ||
* Use of emollients and keratolytic agents to manage hyperkeratosis. | * Use of emollients and keratolytic agents to manage hyperkeratosis. | ||
* Antibiotic therapy to treat any associated infections. | * Antibiotic therapy to treat any associated infections. | ||
== Prognosis == | == Prognosis == | ||
With appropriate management, individuals with Papillon–Lefèvre syndrome can lead normal lives. However, the loss of teeth can affect nutrition and speech, and the skin symptoms can cause discomfort and social stigma. | With appropriate management, individuals with Papillon–Lefèvre syndrome can lead normal lives. However, the loss of teeth can affect nutrition and speech, and the skin symptoms can cause discomfort and social stigma. | ||
== See also == | == See also == | ||
* [[Periodontitis]] | * [[Periodontitis]] | ||
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* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Cathepsin C]] | * [[Cathepsin C]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Skin conditions]] | [[Category:Skin conditions]] | ||
[[Category:Dental conditions]] | [[Category:Dental conditions]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:26, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Papillon–Lefèvre syndrome | |
|---|---|
| |
| Synonyms | Palmoplantar keratoderma with periodontitis |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Palmoplantar keratoderma, periodontitis, hyperkeratosis |
| Complications | Tooth loss, skin infections |
| Onset | Early childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the CTSC gene |
| Risks | Consanguinity |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Haim–Munk syndrome, Chediak–Higashi syndrome |
| Prevention | N/A |
| Treatment | Retinoids, antibiotics, dental care |
| Medication | N/A |
| Prognosis | Variable, depends on management |
| Frequency | Rare |
| Deaths | N/A |
Papillon–Lefèvre syndrome (PLS) is a rare genetic disorder characterized by severe periodontitis leading to premature loss of both primary and permanent teeth, and hyperkeratosis of the palms and soles. It is caused by mutations in the cathepsin C gene.
Symptoms[edit]
The primary symptoms of Papillon–Lefèvre syndrome include:
- Periodontitis: This is often the first sign of PLS, usually appearing between the ages of 1 and 4. It leads to inflammation of the gums and eventual loss of teeth.
- Hyperkeratosis: This involves thickening of the skin on the palms of the hands and soles of the feet. It typically develops during the first few years of life.
Causes[edit]
Papillon–Lefèvre syndrome is caused by mutations in the cathepsin C gene. This gene provides instructions for making a protein that is involved in the immune system. Mutations in this gene lead to a reduction in the activity of the cathepsin C protein, which impairs the immune system's ability to fight off bacteria in the mouth, leading to periodontitis.
Diagnosis[edit]
Diagnosis of Papillon–Lefèvre syndrome is based on the clinical symptoms, particularly the presence of severe periodontitis and hyperkeratosis. Genetic testing can confirm a diagnosis by identifying mutations in the cathepsin C gene.
Treatment[edit]
Treatment for Papillon–Lefèvre syndrome primarily involves managing the symptoms. This may include:
- Regular dental cleanings and use of antibacterial mouth rinses to manage periodontitis.
- Use of emollients and keratolytic agents to manage hyperkeratosis.
- Antibiotic therapy to treat any associated infections.
Prognosis[edit]
With appropriate management, individuals with Papillon–Lefèvre syndrome can lead normal lives. However, the loss of teeth can affect nutrition and speech, and the skin symptoms can cause discomfort and social stigma.
