Toulouse Lautrec syndrome is a rare hereditary condition that affects roughly one in every 1.7 million people. Only 200 cases have been documented in the literature.
Toulouse-Lautrec syndrome is named after Henri de Toulouse-Lautrec, a famous 19th-century French artist who is said to have suffered the illness.
Pycnodysostosis is the medical term for the condition (PYCD). Brittle bones and deformities of the face, hands and other regions of the body are all symptoms of PYCD.
What causes PYCD?
PYCD is caused by a mutation on chromosome 1q21 in the gene that codes for the enzyme cathepsin K (CTSK).
Cathepsin K is essential for bone remodeling, and it breaks down collagen, a protein that serves as a framework for minerals like calcium and phosphorus in the bones.
Toulouse-Lautrec syndrome is caused by a genetic mutation that causes collagen to build up in the bones, resulting in extraordinarily dense but fragile bones.
PYCD is an autosomal recessive condition. To acquire an illness or physical trait, a person must be born with two copies of an aberrant gene. Genes are inherited in pairs.
Your father gives you one, and your mother gives you the other. Both parents are carriers if one of their genes is mutated. For the biological children of two carriers, the following possibilities are possible:
- A child that receives one mutant gene and one unaffected gene is a carrier but does not acquire the disease (50 percent chance).
- A child will develop the condition if both parents carry the defective gene (25 percent chance).
- If both parents carry the unaffected gene, a kid will neither be a carrier nor suffer from the disease (25 percent chance).
What are the signs and symptoms?
The main sign of PYCD is brittle, dense bones. However, people with the syndrome might have a wide range of physical characteristics. They include:
- Weird fingernails and short fingers, high brow
- Short height, often with an adult-size trunk and tiny legs, narrow roof of the mouth, short toes
- Odd breathing patterns, and bigger liver problems with mental functions, while intelligence is usually not harmed.
People with PYCD have a substantially increased risk of falling and fractures because it is a bone-weakening disease. Reduced mobility is one of the complications of fractures.
Owing to the inability to exercise consistently due to bone fractures, weight, cardiovascular fitness, and overall health may be affected.
How is Toulouse-Lautrec syndrome identified?
Toulouse-Lautrec syndrome is frequently diagnosed in childhood. However, because the disease is so uncommon, it might be difficult for a doctor to make the correct diagnosis.
The procedure includes a physical examination, medical history, and laboratory tests. The occurrence of PYCD or other hereditary disorders can assist lead the doctor’s inquiry; thus, getting a family history is highly beneficial.
With PYCD, X-rays can be beneficial. These pictures can reveal bone features that are linked to PYCD symptoms.
A diagnosis can be confirmed via molecular genetic testing. However, you must inform the doctor to do a CTSK gene test. Because it’s a rare genetic test, testing for the gene is done in specialized laboratories.
PYCD treatment usually involves a group of professionals – a pediatrician, an orthopedist (bone specialist), an orthopedic surgeon, and possibly an endocrinologist specializing in hormone issues will be part of a child’s healthcare team if they have PYCD.
(While PYCD is not a hormonal illness, some hormonal medications, such as growth hormone, can help with symptoms).
Adults with PYCD will generally have equivalent specialists and primary care physicians, likely coordinating their care.
Treatment for PYCD must be tailored to your unique symptoms. If the roof of your mouth narrows to the point where the health of your teeth and bite is compromised, your dental care will be coordinated by a dentist, orthodontist, and maybe an oral surgeon. Any facial symptoms may require the assistance of a cosmetic surgeon.
Throughout your life, you will require the services of an orthopedist and orthopedic surgeon. If you have Toulouse-Lautrec syndrome, you will suffer multiple bone fractures. These can be regular breaks caused by a fall or another accident, and stress fractures might develop over time.
Because the bone contains various fracture lines from earlier breaks, a person with repeated fractures in the same region, such as the tibia (shinbone), may be more challenging to identify with stress fractures. They may put a rod in one or both legs of a person with PYCD or another brittle bone disorder.
The doctor may recommend growth hormone therapy if a child is diagnosed with the illness. PYCD can cause short stature; however, growth hormones under the supervision of an endocrinologist can help.
Another promising area of research is the use of enzyme inhibitors, which block the activity of enzymes that may impair bone health.
Manipulating a gene’s function is another promising area of research; Clustered Regularly Interspaced Palindromic Repeats (CRISPR) is one tool for this, which entails modifying a living cell’s genome.
CRISPR is a novel technique that is being researched to treat various genetic diseases. It’s still unclear whether it’ll be a safe and effective treatment for PYCD.