What is Toulouse Lautrec syndrome?

Toulouse Lautrec syndrome is also known as Pycnodysostosis, which is a genetic disorder.

In this disorder face abnormality, hand and other body part abnormality are seen.

This disorder are seen very rare in world wide. Toulouse Lautrec syndrome naming came from the French famous artist Henri de Toulouse-Lautrec. Normal treatment of this disease are not available. So normal fracture of the bone is only primary treatment for this disease.

Cause of the syndrome

Pycnodysostosis is inborn disease which is caused by the deficiency enzyme cathepsin K (CTSK).

Cathepsin K is found in all mammalian body, which is a cysteine peptidase and store in endo-lysosomes and secreted from some special type of cell.

Generally some special types of gene came from the parent, this gene mutation is responsible to code enzyme cathepsin K.

Role of cathepsin K in Pycnodysostosis

Osteoclasts is important bone cell in our body. cathepsin K is helps to reabsorb and formation of new bone cell. In Toulouse Lautrec syndrome normal function of osteoclasts is disturb due to improper guidance by cathepsin K.

Remodeling (absorption of essential component and bone matrix) is essential for normal bone maintenance. Due to improper maintenance of the bone, it becomes week, dense and brittle in nature.

Why cathepsin K enzyme formation disturb?

When new born baby came to world, takes two pair of genes one form mother and other from the father. If the genes are abnormal and its physical ability in the body to mutation then the chances of Toulouse Lautrec syndrome.

This defective gene are found in chromosome 1q21. Due to mutational changes, alter the formation of cathepsin K and alter liposomal cysteine protease.

This altered protease is responsible for degradation of collagen. So there are many other bone disorder are found. 

Symptoms of Toulouse Lautrec syndrome

If the patient is suffer the Pycnodysostosis then the bone is brittle in nature so that easily break down. Along with there are many other symptoms are found in the Toulouse Lautrec disease like


Teeth deformity in Toulouse Lautrec syndrome
Dental anomalies

How to diagnosis the Toulouse Lautrec syndrome?

Doctor diagnosis the Toulouse Lautrec disease to observe the patient and to know the history of the family. They advice to perform the x-ray and more clarify when seen Radiographs image.

To conform Pycnodysostosis doctor is advice to perform CTSK gene mutation analysis. Know a days there are many research are going on to diagnosis the disease by different type of mutation.

Finger X-ray
Finger X-ray

How to treatment Toulouse Lautrec syndrome?

Normally a group of experts is included in PYCD therapy because it is very rare disease. Pycnodysostosis is not especially a hormonal illness, certain hormonal therapies, for example growth hormone, may assist According to the sign and symptoms.

Adults using PYCD will possess comparable experts as well as their primary care doctor, who will probably arrange their attention. Toulouse Lautrec therapy has to be made for your particular symptoms. 

A cosmetic surgeon might be brought in to assist with any facial signs. The maintenance of an orthopedist and orthopedic surgeon will probably be particularly important during your lifetime.

Possessing Toulouse-Lautrec syndrome usually means you’ll probably have numerous bone fractures. These may be regular breaks that occur with a fall or other accident.

They may also be pressure fractures that produce over time. Someone who has numerous fractures in precisely the exact same area, like the tibia (shinbone), may sometimes have a more difficult time being diagnosed with stress fractures since the bone will consist of many fracture lines from prior fractures.

Occasionally an individual who has PYCD or another brittle bone condition may require a pole put in one or both legs.If the disorder is diagnosed with a child, growth hormone treatment might be appropriate.

Other encouraging research involves using enzyme inhibitors that interfere with the action of enzymes which may harm bone health. Promising research also has the manipulation of a particular gene’s function.

The instrument for this is called Clustered Often Interspaced Palindromic Repeats (CRISPR).  CRISPR is a brand new technologies and has been studied in the treatment of several climatic states.

It is not clear yet if it can be a safe and efficient method of treating PYCD.

History of Toulouse Lautrec syndrome

Pycnodysostosis is also know as Toulouse Lautrec syndrome comes from famous artist Henri de Toulouse-Lautrec in 1996. This old disease in the world. In 1962 Maroteaux and Lamy are first to identify so according to the name also known as Maroteaux-Lamy syndrome.

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