Toulouse Lautrec syndrome (pycnodysostosis) is a rare genetic disorder that affects an estimated 1.7 million people worldwide. Only 200 cases are described in the literature. Toulouse-Lautrec syndrome was named after the famous 19th-century French painter Henry de Toulouse Lautrec. This syndrome is clinically known as Pyknodysostosis (PYCD). PYCD causes fractures as well as abnormalities in the face, hands, and other parts of the body.
What toulouse-lautrec syndrome cause?
PYCD is caused by a genetic mutation that encodes the enzyme Cathepsin K into chromosome 1q21. Cathepsin K plays a special role in bone remodeling. It breaks down collagen, especially a protein that serves as a scaffold to protect minerals such as calcium and phosphate in the bones.
PYCD is an autoimmune depressive disorder. That means that a person must be born with two copies of an abnormal gene for a disease or physical trait to develop. Genes are passed on in pairs. You get one from your father and the other from your mother. If both parents have the same mutated gene, they will inevitably become carriers. Biological children of two carriers have the following characteristics:
- If a child inherits one unaffected gene and one mutated gene, they will also be carriers, but the disease will not develop (50 percent chance).
- If a child inherits a mutated gene from their parents, they will get the disease (25 percent chance).
- If a child inherits an unaffected gene from their parents, they will not be carriers and will not develop it (25 percent chance).
What are the (pycnodysostosis) symptoms?
The main symptom of PYCD is but, but unstable. But many other physical symptoms can develop in different ways in people with the condition. Among them:
- Upper forehead
- Unusual nails and short fingers
- The narrow roof of the mouth
- Short toes
- Short in height, often with an adult-sized trunk and short legs
- Abnormal breathing patterns
- Enlarged liver
- Intelligence is not usually affected, but difficulties with mental processes.
Because PYCD is a debilitating disease, people with this condition are at higher risk for falls and fractures. Complications due to fractures include reduced mobility. Failure to exercise regularly due to fractures affects weight, fitness, and overall health.
How is it diagnosed?
The diagnosis of Toulouse Lautrec syndrome (pycnodysostosis) is most often made in infancy. However, because the disease is rare, it can sometimes be difficult for a doctor to make an accurate diagnosis. Physical examination, medical history, and laboratory tests are all part of the process. Having a family history is especially helpful, as having PYCD or other inherited conditions can help guide a doctor’s examination.
X-rays can be particularly exposed to PYCD. These images may show signs of bone corresponding to PYCD symptoms. Molecular genetic testing can confirm the diagnosis. But, the doctor needs to know to test for the CTSK gene. Genetic testing is done in specialized laboratories because it is a rare genetic test.
Toulouse-Lautrec syndrome treatment
Typically, a specific Y group is involved in the treatment of PYCD. A child with PYCD has a healthcare team that includes a pediatrician, an orthopedist, an orthopedic surgeon, and an endocrinologist who specializes in hormonal disorders.
PYCD treatment should be planned for your specific symptoms. If the roof of your mouth is narrow enough to damage the health of your teeth and the health of your teeth, a dentist, orthopedist, and oral surgeon will coordinate your dental treatment. A cosmetic surgeon can be called in for any facial symptoms.
The care of an orthopedic surgeon and orthopedic surgeon will be especially urgent throughout your life. Having Toulouse-Lautrec Syndrome (pycnodysostosis) means you have several fractures. These can be standard fractures that occur with a fall or other injury. They can be stress fractures that develop over time.
A person with a fracture in the same area as the tibia (shinbone) may sometimes find it challenging to identify tension fractures. Sometimes a person with PYCD or other skeletal conditions will need one or both rods.
If this is detected in a child, growth hormone therapy may be appropriate. Premature aging is a common side effect of PYCD, but growth hormone, which is carefully monitored by an endocrinologist, can help. Further encouraging research includes the use of enzyme inhibitors that inhibit the activation of enzymes that can damage bone health. Manipulating the activation of a specific gene also promises to be researched. One tool for this is called cluster regular interspersed Palindromic Repeats (CRISPR). It involves the genetic modification of a living cell. CRISPR is a new technology. It is not yet clear whether it is a safe and effective way to treat PYCD.