Pachydermoperiostosis: Difference between revisions
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{{Infobox medical condition | |||
| name = Pachydermoperiostosis | |||
| synonyms = Primary hypertrophic osteoarthropathy | |||
| field = [[Rheumatology]] | |||
| symptoms = [[Clubbing (medicine)|Clubbing of fingers and toes]], [[periostosis]], [[thickening of the skin]] | |||
| complications = [[Arthralgia]], [[gastric ulcer]], [[seborrhea]] | |||
| onset = [[Adolescence]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = [[Genetic disorder]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical diagnosis]], [[X-ray]], [[genetic testing]] | |||
| differential = [[Secondary hypertrophic osteoarthropathy]], [[acromegaly]], [[thyroid acropachy]] | |||
| treatment = [[Nonsteroidal anti-inflammatory drug|NSAIDs]], [[surgery]], [[retinoids]] | |||
| prognosis = [[Variable]] | |||
| frequency = [[Rare disease]] | |||
}} | |||
'''Pachydermoperiostosis''' (also known as '''Primary hypertrophic osteoarthropathy''' or '''Touraine-Solente-Golé syndrome''') is a rare genetic disorder that primarily affects the skin and bones. The condition is characterized by three main features: pachydermia (thickening of the skin), periostosis (excessive bone growth), and digital clubbing (enlargement of the fingertips). | |||
== Symptoms == | == Symptoms == | ||
The symptoms of Pachydermoperiostosis typically begin in adolescence or early adulthood and may include: | The symptoms of Pachydermoperiostosis typically begin in adolescence or early adulthood and may include: | ||
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* [[Pachydermia]]: Thickening of the skin on the face and scalp can lead to deep folds and wrinkles. This can result in a characteristic leonine (lion-like) appearance. | * [[Pachydermia]]: Thickening of the skin on the face and scalp can lead to deep folds and wrinkles. This can result in a characteristic leonine (lion-like) appearance. | ||
* [[Periostosis]]: Excessive bone growth can cause pain, joint swelling, and deformity. This most commonly affects the long bones in the arms and legs, but can also affect the skull and fingers. | * [[Periostosis]]: Excessive bone growth can cause pain, joint swelling, and deformity. This most commonly affects the long bones in the arms and legs, but can also affect the skull and fingers. | ||
== Causes == | == Causes == | ||
Pachydermoperiostosis is caused by mutations in the [[HPGD]] or [[SLCO2A1]] gene. These genes are involved in the breakdown of certain substances in the body, including [[prostaglandin E2]], which plays a role in inflammation and bone formation. Mutations in these genes lead to an accumulation of prostaglandin E2, which is thought to contribute to the symptoms of the disorder. | Pachydermoperiostosis is caused by mutations in the [[HPGD]] or [[SLCO2A1]] gene. These genes are involved in the breakdown of certain substances in the body, including [[prostaglandin E2]], which plays a role in inflammation and bone formation. Mutations in these genes lead to an accumulation of prostaglandin E2, which is thought to contribute to the symptoms of the disorder. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Pachydermoperiostosis is based on the characteristic physical features and confirmed by genetic testing. Imaging studies such as [[X-ray]]s or [[CT scan]]s may be used to detect bone changes. | Diagnosis of Pachydermoperiostosis is based on the characteristic physical features and confirmed by genetic testing. Imaging studies such as [[X-ray]]s or [[CT scan]]s may be used to detect bone changes. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Pachydermoperiostosis. Treatment is aimed at managing symptoms and may include pain relievers, physical therapy, and in some cases, surgery to correct bone deformities. | There is currently no cure for Pachydermoperiostosis. Treatment is aimed at managing symptoms and may include pain relievers, physical therapy, and in some cases, surgery to correct bone deformities. | ||
== See also == | == See also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Bone disorder]] | * [[Bone disorder]] | ||
* [[Skin disorder]] | * [[Skin disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Bone disorders]] | [[Category:Bone disorders]] | ||
[[Category:Skin disorders]] | [[Category:Skin disorders]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 01:19, 4 April 2025
| Pachydermoperiostosis | |
|---|---|
| Synonyms | Primary hypertrophic osteoarthropathy |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Clubbing of fingers and toes, periostosis, thickening of the skin |
| Complications | Arthralgia, gastric ulcer, seborrhea |
| Onset | Adolescence |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic disorder |
| Risks | Family history |
| Diagnosis | Clinical diagnosis, X-ray, genetic testing |
| Differential diagnosis | Secondary hypertrophic osteoarthropathy, acromegaly, thyroid acropachy |
| Prevention | N/A |
| Treatment | NSAIDs, surgery, retinoids |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare disease |
| Deaths | N/A |
Pachydermoperiostosis (also known as Primary hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome) is a rare genetic disorder that primarily affects the skin and bones. The condition is characterized by three main features: pachydermia (thickening of the skin), periostosis (excessive bone growth), and digital clubbing (enlargement of the fingertips).
Symptoms[edit]
The symptoms of Pachydermoperiostosis typically begin in adolescence or early adulthood and may include:
- Digital clubbing: This is often the first sign of the disorder. The fingertips and toes become enlarged and the nails curve around the fingertips.
- Pachydermia: Thickening of the skin on the face and scalp can lead to deep folds and wrinkles. This can result in a characteristic leonine (lion-like) appearance.
- Periostosis: Excessive bone growth can cause pain, joint swelling, and deformity. This most commonly affects the long bones in the arms and legs, but can also affect the skull and fingers.
Causes[edit]
Pachydermoperiostosis is caused by mutations in the HPGD or SLCO2A1 gene. These genes are involved in the breakdown of certain substances in the body, including prostaglandin E2, which plays a role in inflammation and bone formation. Mutations in these genes lead to an accumulation of prostaglandin E2, which is thought to contribute to the symptoms of the disorder.
Diagnosis[edit]
Diagnosis of Pachydermoperiostosis is based on the characteristic physical features and confirmed by genetic testing. Imaging studies such as X-rays or CT scans may be used to detect bone changes.
Treatment[edit]
There is currently no cure for Pachydermoperiostosis. Treatment is aimed at managing symptoms and may include pain relievers, physical therapy, and in some cases, surgery to correct bone deformities.
