What is Pachydermoperiostosis?
Pachydermoperiostosis which is also known by the name of Pachydermoperiostosis is an extremely rare pathological condition characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain.
How common is Pachydermoperiostosis?
Pachydermoperiostosis is extremely common. It is more common in African Americans than in whites. The male-to-female case ratio is approximately 7:1. Typically, men are affected more severely than women. Women often have milder findings, and their disease may remain undetected. Please discuss with your doctor for further information.
What are the symptoms of Pachydermoperiostosis?
The common symptoms of Pachydermoperiostosis are
- Coarse facial features with oily, thick, grooving skin on the face
- Joint pain
- Abnormal enlargement of the tips of the fingers and toes (clubbing)
- Excessive sweating of the hands and feet (hyperhidrosis)
- New fibrous bone growth (periostosis), especially of the ends of the long bones
- A condition in which the skin of the scalp has excess bulk causing depressions or grooves (cutis verticis gyrata). This symptom typically becomes apparent during the teen years.
Other symptoms may be:
- Swelling or pain of the large joints
- Drooping eyelids (ptosis)
- A long-term inflammatory skin disease that causes dry or moist, scales and a yellowish crust (seborrheic dermatitis)
- Disorders such as ulcers
- Swelling of hair follicles related to large open pores of the skin
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Pachydermoperiostosis?
The exact cause of Pachydermoperiostosis is still unknown. As of now, no specific gene mutation has been observed that results in the development of Pachydermoperiostosis. Some studies suggest a mutation in gene called 15-hydroxyprostaglandin dehydrogenase has been related to the development of Pachydermoperiostosis although it has not been proven as of yet.
This condition follows primarily an autosomal dominant pattern meaning that one copy of the defective gene inherited from one parent is good enough for a child to develop Pachydermoperiostosis. In some cases autosomal recessive pattern has also been noted to cause Pachydermoperiostosis.
What increases my risk for Pachydermoperiostosis?
Consanguineous marriages are believed to be the cause of most of genetic disorders including Pachydermoperiostosis.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Pachydermoperiostosis diagnosed?
The diagnosis of Pachydermoperiostosis is made clinically with the presenting features of clubbing of the fingers and toes along with thick facial skin and excessive sweating. Apart from this there is no specific test to confirmatively diagnose Pachydermoperiostosis.
How is Pachydermoperiostosis treated?
The treatment of Pachydermoperiostosis is basically symptomatic. The bone and joint pain caused as a result of abnormalities due to this condition can be controlled by NSAIDs. In some cases, steroids may also be used to calm down the pain.
The facial abnormality can be treated surgically. Medications can also be given to control hyperhidrosis. Genetic testing is of great benefit in people who have a family member dealing with Pachydermoperiostosis.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Pachydermoperiostosis?
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Review Date: January 31, 2018 | Last Modified: February 22, 2018
Touraine-Solente-Gole Syndrome: Causes, Symptoms, Treatment https://www.epainassist.com/genetic-disorders/touraine-solente-gole-syndrome Accessed January 31, 2018
Pachydermoperiostosis https://rarediseases.info.nih.gov/diseases/7299/pachydermoperiostosis Accessed January 31, 2018
Pachydermoperiostosis https://emedicine.medscape.com/article/1075122-overview#a6 Accessed January 31, 2018