Dysplasia (hip, fibrous, ectodermal): what is it?

Dysplasia (hip, fibrous, ectodermal): what is it?

 

Dysplasia is “a malformation or anomaly in the development of a tissue or an organ”, according to Larousse. It occurs during the embryonic period or after birth. Dysplasias are multiple. Here are a few.

Hip dysplasia

“It is characterized by a deformation of the hip joint”, explains Dr Jean-François Marc, rheumatologist. “At birth, 2 in 1000 babies are affected. 6 times out of 10, it is a girl. This congenital malformation – that is to say, which appears in the mother’s womb – may be due to the breech presentation at the time of birth. “

Early detection

Compulsory screening, even before leaving the maternity ward, can detect most hip dysplasias. And so much the better. Because “the later it is detected, the more problematic it becomes. Some people, having escaped screening, walk into adulthood with dislocated hips, ”says Dr Marc. To see if the hip is well in its socket, the pediatrician performs specific maneuvers, known as Barlow and Ortolani. “If dysplasia is not detected at birth, it is still possible to ‘catch up’ with a systematic X-ray at the age of 5 months. “

The treatment

If treatment is necessary, it will consist in correctly repositioning the femoral head in the acetabulum, so that the hip can develop normally. “Up to 6 weeks, we spread the thighs of the little one with what is called a Calin diaper, so that the bone develops harmoniously. Beyond that, the Pavlik harness is used. This child-friendly device keeps the hip in a good position for proper development.

Orthopedic surgery

In rare cases, orthopedic surgery will be necessary. This operation then aims to repair the anomaly. “We will correct the problem to delay the prosthesis. ” The conclusion ? “We can avoid all that. No child today should fall through the cracks of screening. “

Patellofemoral dysplasia

The patella (kneecap) is a small, flat, triangular bone located at the front of the knee and articulated with the femur. When this patella is so unstable that it can end up dislocating, it is called patellofemoral dysplasia. A congenital malformation that is not detected at birth, but which is a frequent reason for consulting a sports doctor.

The diagnosis

The diagnosis is made with a simple x-ray. Analgesics, applying cold to the area, and resting may be enough to relieve the pain. Physiotherapy sessions to strengthen the quadriceps can help stabilize the kneecap. In the most severe dysplasias, it will be necessary to pass on the operating table, to put the kneecap back in the correct position.

Dysplasia of the cervix (or cervical)

Some cells in the cervix are abnormal, causing damage. This is called dysplasia. It is linked to infection with a sexually transmitted virus, the human papillomavirus. Cervical dysplasia is usually silent, it evolves in the shadows.

Prevention

This is why the High Authority for Health (HAS) recommends performing a cervico-vaginal smear every 3 years (after the first two normal smears carried out one year apart), from 25 years old and up to 65 years old. . If the gynecologist finds abnormalities in a smear, he performs a colposcopy, examination with a magnifying glass and dyes to determine if a lesion exists. He also takes a fragment of tissue from the cervix – it is a biopsy – which he has to analyze in the laboratory.

Left untreated, these dysplasias can resolve spontaneously. They can also progress – in the long term – to cancer of the cervix. 

The treatment

The treatment ? It depends on the stage of dysplasia. If it is “light”, nothing is done, other than monitoring, at regular intervals. If it is “moderate” or “severe”, it must be managed so as not to progress to cervical cancer. Two treatments exist to destroy these lesions: the laser, or the conization, which consists in removing a piece of neck having the shape of a small cone.

The vaccine

There is a vaccine that protects against certain papillomaviruses. It is offered to young girls aged 11 to 14, with a possible catch up to 19 years inclusive. But it does not completely protect. Pap smear screening must therefore be continued. 

Ectodermal dysplasia

The ectoderm is the outer layer of the embryo. Ectodermal dysplasias – more than 120 have been identified – are characterized by the abnormal development of at least two ectodermal derivatives. Concretely ? A person who has it can often have very thinning hair, missing or abnormally shaped teeth, dry skin or no sweating.

Symptoms

This last point can quickly become problematic when the temperature exceeds 26ºC. Symptoms may be mild, or be accompanied by life-threatening complications. Diagnosis is based on clinical examination. To date, there is no treatment. But it is possible to repair many of these anomalies, by having dental prostheses fitted for example. The dermatologist will be the privileged interlocutor to treat the symptoms and improve daily life.

Fibrous dysplasia

It is a rare bone disease, where bone tissue is replaced by pseudofibrous tissue. This results in brittle bones. It is non-hereditary, that is to say, it is not transmitted. All bones can be affected. It is caused by a mutation in the GNAS gene on chromosome 20. A simple mutation that prevents bone-making cells from developing normally. 

Symptoms

It is often asymptomatic, many patients ignore each other. It may happen that a fibrous dysplasia is discovered by chance, during an X-ray performed for another reason. For the symptomatic forms, there are pain, bone deformities, or frequent fractures. Diagnosis is based on imaging. 

Treatments

The treatments depend on each patient: orthopedic treatment, phosphorus supplementation, treatment with bisphophonates, etc.

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