Pachydermoperiostosis synonyms

Pachydermoperiostosis, also known as primary hypertrophic osteoarthropathy (PHO), is a rare genetic disorder characterized by thickening of the skin and abnormal bone growth. This condition primarily affects the skin, bones, and joints, leading to various symptoms and physical changes.

Synonyms for Pachydermoperiostosis include:

• Primary hypertrophic osteoarthropathy


• Touraine-Solente-Golé syndrome


• Hypertrophic osteoarthropathy


• PDP


• Pachydermia osteoarthropathica


• Pachydermoperiostosis syndrome

Pachydermoperiostosis is characterized by thickened skin on the face, scalp, and extremities, giving a coarse and wrinkled appearance. This condition also leads to excessive bone growth and swelling of the joints, causing pain and limited mobility. Individuals with Pachydermoperiostosis may experience clubbing of the fingers and toes, where the nail beds become enlarged and rounded.

The exact cause of Pachydermoperiostosis is not fully understood, but it is believed to be inherited in an autosomal dominant manner, meaning a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. Genetic mutations in the HPGD gene have been associated with Pachydermoperiostosis.

Diagnosis of Pachydermoperiostosis involves a combination of clinical evaluation, imaging tests such as X-rays and bone scans, and genetic testing to confirm the presence of HPGD gene mutations. While there is no cure for Pachydermoperiostosis, treatment focuses on managing symptoms and improving quality of life. This may involve the use of nonsteroidal anti-inflammatory drugs (NSAIDs) to alleviate pain and inflammation, physical therapy to maintain joint mobility, and cosmetic interventions to address the skin changes.

In conclusion, Pachydermoperiostosis, also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by thickened skin, abnormal bone growth, and joint swelling. It is important to consult with healthcare professionals for proper diagnosis and management of this condition.