About touraine-solente-gole syndrome

What is touraine-solente-gole syndrome?

Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers, thickening of the skin of the face (pachyderma), and excessive sweating (hyperhidrosis). It typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years.

Specific symptoms include enlargement of the fingers and toes (clubbing), a condition in which there is a fibrous covering on the ends of the long bones (periostosis), coarse facial features, increased bulk of the skin on the scalp forming folds, depressions or furrows of the scalp (cutis verticis gyrata), and/or excessive sweating of the hands and feet. Pachydermoperiostosis is the complete or primary form of a more common disorder known as idiopathic primary hypertrophic osteoarthropathy (HOA).



What are the symptoms for touraine-solente-gole syndrome?

PHO is characterized by problems with the growth of skin and bones. People with PHO usually have coarse facial features with oily, thick, grooved skin on the face, joint pain, large tips of the fingers and toes (clubbing) and extra Sweating of the hands and feet (hyperhidrosis).

New bone growth (periostosis), often at the ends of the long bones, causes joint pain. Extra skin on the scalp can be seen that causes deep grooves or ridges (cutis verticis gyrate).These grooves or ridges usually occur during the teen years.

Other symptoms can include Swelling or Pain of the large joints; drooping eyelids (ptosis); a long-term skin condition that causes dry or moist scales and a yellowish crust (seborrheic dermatitis); ulcers; long eyelashes; occasional diarrhea; Swelling of hair follicles related to large open pores of the skin; heart disease present at birth and/or delayed closure of the space between the bones of the skull (fontanelles).

The symptoms vary between individuals, but overall, males tend to have more serious symptoms than females. X-rays can help look at features that are not as noticeable to the naked eye.



What are the causes for touraine-solente-gole syndrome?

For most individuals, the diagnosis of PHO is based on the clinical features. It is recognized more often in males than females, as males have more noticeable and severe features. PHO can be inherited, but a non-genetic form has also been described.

Genetic conditions can be inherited in different ways. Individuals typically inherit one copy of a gene pair from their mother, and the other from their father. Genes provide instructions to tell the body how to function. When there is a harmful change (mutation) in a gene it may not function normally leading to unusual features and/or conditions. Autosomal dominant and autosomal recessive inheritance patterns have been reported for PHO.

There are two genes that have been associated with PHO: HPGD and SLCO2A1. Mutations in HPGD are associated with autosomal recessive inheritance and this condition is sometimes abbreviated PHOAR1 or Touraine-Solente-Gole syndrome.

Recessive genetic conditions occur when an individual inherits one non-working gene for the same condition from each parent. If an individual receives one normal gene and one gene with a mutation, the person will be a carrier for the condition and will usually not show symptoms. The chance for two carrier parents to both pass the non-working gene and, therefore, have a child with that condition is 25% with each pregnancy. The chance to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal working genes from both parents is 25%. The chance is the same for males and females.

Parents who are closely related by blood (consanguineous) have a higher chance than unrelated parents to both carry the same non-working gene, which increases the chance to have children with a recessive genetic disorder.

PHO caused by mutations in SLCO2A1 can be dominant or recessive. The recessive form is called PHOAR2. The dominant form is called PHOAD. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to see symptoms of the condition. The non-working gene can be inherited from either parent or can be the result of a new mutation (gene change) in the individual with the condition. The chance of passing the non-working gene from an affected parent to child is 50% for each pregnancy. The risk is the same for males and females. However, with PHOAD, males are more commonly and often more severely affected.



What are the treatments for touraine-solente-gole syndrome?

Treatment is mostly aimed at specific symptoms and is supportive. Nonsteroidal anti-inflammatory drugs (NSAIDs, such as Advil), colchicine, or corticosteroids can be taken to decrease bone and joint pain.

Vagotomy, a surgical procedure in which certain branches of the vagus nerve are cut, may improve joint pain and swelling. Retinoids can be used to treat symptoms that involve the skin. Plastic surgery may be performed to improve facial appearance. Surgery can treat clubbing of the fingers.

Genetic counseling may be helpful for patients and their families.



What are the risk factors for touraine-solente-gole syndrome?

PHO is a rare disorder that affects males more than females with a ratio of 7:1. This means that for about every 7 males that are diagnosed with this condition, 1 female is diagnosed. However, since females tend to have milder symptoms than males, females may go undiagnosed.



Is there a cure/medications for touraine-solente-gole syndrome?

Due to a paucity of controlled data, the effective treatment for touraine-solente-gole syndrome is currently uncertain and is mostly dependent on case reports. Although the HPGD enzyme is believed to be implicated in the pathophysiology of PDP, no techniques to combat this mutation have been documented as of yet, because dealing with a faulty enzyme is difficult. Although this has not yet been published in the literature, gene therapy could be a remedy.

  • NSAIDs and corticosteroids are common PDP medication treatments for reducing inflammation and pain. Other medicines prescribed to PDP patients are those that target bone growth or skin symptoms. Cosmetic surgery is used to improve one's look.
  • Inflammation and pain medication: It is most commonly treated with nonsteroidal anti-inflammatory medications (NSAIDs) and corticosteroids.
  • These medications work by inhibiting cyclo-oxygenase activity and thereby prostaglandin generation. Because PGE2 is thought to be involved in periosteal bone growth and acroosteolysis, these medications may help with the polyarthritis associated with PDP. Furthermore, NSAIDs and corticosteroids inhibit the synthesis of inflammatory mediators, which reduces inflammation and pain. If gastropathy is suspected, the COX-2 specific NSAID etorixocib is preferable.
  • Surgical Treatment: Aside from medication treatments, there are numerous surgical procedures available to alter the appearance of the face. Facelift, also known as facial rhytidectomy, is one of them. This approach is a sort of cosmetic surgery operation designed to give the look of being younger.
  • Excess facial skin is removed, and the skin on the face and neck is tightened. Plastic surgery is a second alternative. This is also used to treat drooping eyes.


Symptoms
Enlargement of digits and clubbing
Conditions
Major criteria - pachydermia, periostosis, finger clubbing; Minor criteria - hyperhidrosis, arthralgia, hypertrophic gastritis, ptosis, joint effusion, seborrhea, acne, and flushing
Drugs
Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids



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