This is medical condition named after a French artist who lived in the 19th century. This is a very rare condition, and is categorized under genetic disorders. Though it is an extremely uncommon condition, needful knowledge about it can help you understand this disorder better.

All over the world, Toulouse-Lautrec syndrome is seen to affect nearly 1 among 1.9 million persons. It is such a rare condition that medical sciences have documented only about 205 instances so far. The great French painter Henri de Toulouse-Lautrec was known to have suffered from it, and hence this genetic disorder is named after him. In clinical parlance, it is termed as pycnodysostosis (in short, PYCD).

What causes this medical condition?

The chromosome 1q21 has an enzyme called cathepsin K. When a gene that makes this enzyme to act gets changed or mutated, it can result in pycnodysostosis or Toulouse-Lautrec syndrome. This enzyme (cathepsin K) is important for the structuring and modelling of your bones. The protein formed from this enzyme works as support material for bone-forming nutrients such as phosphates and calcium. When the gene mutates, it leads to brittle but denser bones. This is mainly due to the additional formation of proteins (called as collagens – triggered by this mutated gene).

Signs of this medical condition

The most important fact is people with Toulouse-Lautrec syndrome may bear higher risks of fracturing due to falls. Due to problems associated with mobility, they may not be able to maintain proper cardiac health as well as overall fitness.

A unique sign of this medical condition is the formation of brittle but dense bones. However, a few other symptoms also characterise its occurrence; these signs are shorter toes, elevated forehead, shorter legs, a shrunk stature and a shortened roof of mouth. Other signs are problems in cognition (processing of information); however, intelligence levels of people with this condition are found to be normal. People with Toulouse-Lautrec syndrome may also suffer from non-linear breathing cycles as well as a large sized liver.

How to find out if you have this condition?

Often times, doctors find it very difficult to arrive at a conclusion. This is mainly due to the rarity of Toulouse-Lautrec syndrome. In general, it is diagnosed when one is a toddler. It is confirmed through an examination of limbs, toes and fingers along with understanding the clinical history of parents as well as a few tests (done in the lab). Of all these, parents’ medical history can help understand the incidence of Toulouse-Lautrec syndrome. It is required to disclose all known genetic disorders running in the family’s genes to enable an effective diagnosis of this condition.

As gene tests are not commonly done, such tests are only done in advanced gene testing labs. Your physician may want to check CTSK gene at its molecular level. These tests go a long way in ascertaining the medical condition. Apart from tests done on your genes, x-rays are taken to understand your bone structure and density of bones.

How to treat Toulouse-Lautrec syndrome?

It takes a team of doctors with special qualifications with related experiences to treat this condition. The team usually has a bone health specialist (orthopedist), child health doctor (pediatrician) and may also have a doctor who treats hormone related disorders (an endocrinologist). In some cases, the team may also need the services of a surgeon (normally a specialist in orthopedic surgery). You may wonder what the role a hormone specialist might play here; this team-member is required to contain a few signs of this condition through activation of growth hormones. Such hormone related treatments are required for children who may not grow as much as children of their same age. It is also possible to inhibit the action of select enzymes which may be potentially harmful to the health of your bones.

The aforesaid team members constitute a typical team formed to treat children. For grown-up individuals diagnosed with Toulouse-Lautrec syndrome, the treating team of specialists will also include a primary care doctor. This doctor’s role is to serve as a coordinator of treatments planned and administered.

The treatment plan

No two treatment plans are same; each plan is developed in response to the signs of the medical condition. If your facial muscles stand affected as part of the symptoms, the treatment plan will need a cosmetic surgeon’s role. On the other hand, if the roof portion of your mouth is not large enough (and is too narrow), then your treatment plan will involve an orthodontist; and, so as to seamlessly administer oral care, your treatment plan may need the care of an oral surgeon.

Adults and children with Toulouse-Lautrec syndrome are advised not to engage in contact-based sports such as football, hockey, etc. Instead, sporting activities such as cycling, swimming and the likes are best suited for them.

As Toulouse-Lautrec syndrome is likely to make your bones more brittle, the odds of bone fractures are high. Hence, care of an orthopedic surgeon or an orthopedist may be needed on a continued basis. Even if you have carefully avoided accidental falls, fractures may occur due to anxiety and stress. If the number of fractures is multiple, your orthopedist may place a rod in your leg. If both legs bear multiple fractures, rods may be implanted in both of them.

Living with Toulouse-Lautrec syndrome

People with this syndrome have been able to lead a proper life. But, it may require an active role of your doctors along with taking needful precaution to avoid falls or fractures. Also, it becomes necessary to openly talk with your partner to keep away risks of mutated genes getting passed onto your children. Your partner in turn may also need to check her / his genetic health to rule out possible risks she / he may carry. The risks of your child getting this condition can go up to 50% if your partner has Toulouse-Lautrec syndrome and if you are also a carrier.

In essence, Toulouse-Lautrec syndrome may be triggered when a gene that needs to code an enzyme called cathepsin K gets mutated. Cathepsin K is essential to model your bones; especially, its protein acts as a support substance for nutrients like calcium and phosphates. This gene mutation leads to denser bones. This syndrome also can make your bones to become brittle and so the chances of fractures are more. At times, fractures may also occur due to added stress. People living with Toulouse-Lautrec syndrome must not play contact-based sports. Activities like swimming, cycling, and etc. suit well for this medical condition.

Last but not the least, people with Toulouse-Lautrec syndrome can lead a normal life if they take needful caution and also avail continued care from their team of medical specialists.

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