Pachydermoperiostosis
Pachydermoperiostosis (pronunciation: pak-i-dur-mo-peri-os-toh-sis) is a rare genetic disorder that primarily affects the skin and bones. It is also known as Primary hypertrophic osteoarthropathy or Touraine-Solente-Golé syndrome.
Etymology
The term "Pachydermoperiostosis" is derived from the Greek words "pachy" meaning thick, "derma" meaning skin, "peri" around, and "ostosis" referring to the condition of the bone.
Symptoms
The symptoms of Pachydermoperiostosis typically begin in adolescence and may include clubbing of the fingers and toes, thickening of the skin (pachydermia), excessive sweating (hyperhidrosis), and painful swelling of the joints (arthralgia).
Causes
Pachydermoperiostosis is caused by mutations in the HPGD or SLCO2A1 gene. It is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Pachydermoperiostosis is based on the clinical symptoms, radiographic findings, and can be confirmed by genetic testing.
Treatment
There is currently no cure for Pachydermoperiostosis. Treatment is symptomatic and may include pain management, physical therapy, and in some cases, surgery.
See also
External links
- Medical encyclopedia article on Pachydermoperiostosis
- Wikipedia's article - Pachydermoperiostosis
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