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

Dysplasia is a lack of development of certain organs (knee, hip, etc.) present from birth, the origin of which may be linked to a family predisposition. Some dysplasias allow live normally but others are deadly. There are many types of dysplasia and treatments differ depending on the case. At the house of the baby, the search for hip dysplasia is systematic at birth. What is dysplasia? What causes dysplasia?

Definition: what is dysplasia?

Dysplasia is abnormal development of certain organs present from birth and causing malformations or deformities. Some dysplasias are compatible with life, others are not, and lead to death at birth or sometimes before delivery. Dysplasia leads to body dysfunctions, and can sometimes compromise the vital prognosis. Many forms of dysplasia exist.

What are the different types of dysplasia?

► hip dysplasia is an architectural hip formation defect, related to abnormal hip development during the growth of the fetus. “There are several types of faults: insufficient coverage of the femoral headexcessive obliquity of the roof of the acetabulum or dysplasia of the femur“, explains Dr. Emmanuel Maheu, a rheumatologist in Paris.”All have the same consequence, namely a less good distribution of the pressures related to the weight of the body on the joint, risking to cause pain and osteoarthritis in the long term.“.

► Also called cervical dysplasia, cervical dysplasia is a transformation of the tissue of the cervix. “There are mild, moderate or severe dysplasias which correspond to low or high grade intraepithelial lesions. The severity of the dysplasia is established according to the type of architectural anomaly found in the epithelium from the depth to the surface.” explains Dr. Peyrelevade, gynecologist. Dysplasia of the cervix is ​​due to HPV type 16 or 18 infection. Low-grade dysplasia corresponds to damage to approximately 1/3 of the superficial tissue, and high-grade dysplasia to the transformation of 2/3 to all of the tissue covering the cervix. Its evocation makes one shudder, sinceit is associated with cervical cancer. However, half of low-grade dysplasias will regress in 1 to 2 years and only 0.1 to 0.2% of cases will progress to cancer. It is nevertheless essential for women to be followed gynecologically from puberty.

► The ectodermal dysplasias are rare hereditary diseases affecting the skin and its appendages (teeth, hair, sweat glands, nails, mammary glands, etc.). We speak of ectodermal dysplasia when at least two ectodermal derivatives have modified structures. Most often, affected individuals have the dry skin with a predisposition to dermatitis, the hair is sparse with a tendency to alopecia, teeth grow slowly and some may be missing and nails may be dystrophic or absent. There is currently no treatment for this type of dysplasia.

► Fibrous dysplasia is a rare bone disease, congenital but not hereditary, where bone tissue is replaced by pseudofibrous tissue. Always benign, it may or may not be asymptomatic. Some patients will have clinical symptoms such as pain, bone deformities or frequent fractures. There are different types of treatment for these dysplasias, offered according to the patient’s symptoms (orthopedic treatment, phosphorus supplementation, treatment with bisphophonates, etc.).

► Also called Patellofemoral dysplasia, patellar dysplasia or knee dysplasia is a congenital anomaly of the trochlea, articular surface located between the femur and the patella (or patella), at the origin of a patella instability. It can predispose to a pain syndrome and repeated dislocations. His diagnosis will be made through a clinical examination, accompanied by an X-ray, which shows the dysplasia of the trochlea. A CT scan in case of doubt can be informative. In the event of significant clinical repercussions, surgical treatment is necessary to refocus the patella and sometimes replace the trochlea.

► Cleidocranial dysplasia is a genetic disease which affects the formation of bones (mainly skull and clavicle) and the dentition. With a very low prevalence (1 child in 1 million), this dysplasia generally causes growth and development delay, dental abnormalities and aplasia of the clavicles. Apart from bone symptoms, chest, sinus, and ear infections are frequent. However, with regular medical monitoring, affected individuals can lead normal active lives.

What causes dysplasia?

If they are still of congenital origin, not all are detected at birth. As Dr. Maheu observed, “it often happens that an adult consults following pain in the groin or in the upper thighs for a dysplasia not yet diagnosed.“There would be certain risk factors for this developmental anomaly:

• a baby of more than 4 kg,
• a baby left behindlong in siege,
• of the twins whose hips were bent in flexion during pregnancy.
• Girls are more exploded with a proportion of 6 girls for 4 boys affected at birth.
• There exists a familial predispositionit is therefore necessary to be more vigilant if one of the parents has presented dysplasia.

► In the baby. At birth, the search for hip dysplasia is systematic. It consists first of all of a clinical examination of the baby’s hips called “Barlow maneuver” and can detect hip instability, confirmed by a pelvic x-ray.

► The diagnosis in adults consulting for hip pain is based on a radiological examination : standing front pelvis and false profiles of the two hips. “These three images, which make it possible to measure the 3 angles indicative of good hip architecture, are sufficient to confirm the diagnosis. MRI or CT scan are unnecessary“ explains the specialist.

► “Diagnosis of cervical dysplasia is made by microscopic analysis of biopsies (sampling of a fragment of the cervix) carried out by the gynecologist during a colposcopy (examination allowing using dye to detect the zones to be analyzed).
Only women with abnormalities diagnosed on their screening smear will be prescribed a colposcopy by their gynecologist.e”, explains Dr Sarah Peyrelevade.

What treatment for dysplasia?

The treatment of dysplasia, of course, depends on its severity. “It may be offered for mild dysplasia destruction of lesions by laser, or for severe dysplasias a surgical treatment called conization. Conization removes the dyspalsic part of the cervix“, indicates the specialist.

► infant dysplasiaquickly detected, is generally corrected in a few months by the placement of an abduction swaddle or abduction cushion, which allows the baby’s hips to remain wide enough apart. If the diagnosis was made later, wearing a more disabling and restrictive harness may be necessary.

► Finally, when detected adulthood, the patient must be followed by his general practitioner and regularly by the rheumatologist to follow the evolution. “In any case, we recommend regular physical activity such as cycling, swimming or walking and exercises, to strengthen the musculature around the hip (gluteal thighs). In contrast, sports with a high level of stress on the hip such as judo or dance should be avoided“, insists the specialist.

Evolutions of dysplasia: in which cases to operate?

Progressive dysplasia causing mechanical pain and functional discomfort can lead to a osteoarthritis which should be treated as such. A prosthetic surgery may be necessary as a last resort. For well-defined cases, there is the possibility of performing corrective surgery for dysplasia in order to prevent or delay the onset of cox osteoarthritis for as long as possible. The rheumatologist in conjunction with the orthopedist will judge the indication on a case-by-case basis.

Thanks to Dr Emmanuel Maheu, rheumatologist in Paris, and Dr Sarah Peyrelevade, gynecologist in Paris.