Muffucci syndrome is a serious disease that relates to congenital pathologies and is not inherited. It is accompanied by changes in bone and cartilage, the patient has an outgrowth of irregular shape on the skin. Neoplasms have a nodular shape and provoke deformation of the limbs. Most often, pathology is diagnosed in the male part of the population. Muffucci syndrome and Olier disease are similar to each other, therefore, differential diagnosis is carried out.
When was the disease first detected?
This syndrome is diagnosed in childhood, progresses gradually, is accompanied by severe symptoms and causes considerable discomfort to a small patient. With the development of pathology, the patient begins to complain of a deterioration in overall health. The violation was first discovered by the doctor A. Maffucci in 1881, in whose honor the syndrome was named. He found volume formations on the limbs of a mature woman, which completely limited her in movements.
Also, with this disease, deformation of the skeleton is necessarily detected, which can easily be seen in x-ray images. In women, they were also present. All external signs of abnormality were removed by surgery. As a result of the operation, an infection was introduced, which provoked the death of the patient.
Muffucci syndrome: frequency of occurrence? This pathology is diagnosed quite rarely. With such a violation, the patient with the right therapy can live up to 40 years, but it is worthwhile to understand that the disease will cause him considerable discomfort and pain.
What is muffucci syndrome?
The disease is accompanied by multiple changes that occur not only externally, but also internally. All deviations can be determined only after a thorough examination. It is almost impossible to diagnose pathology on your own.
Accompanied by:
- Benign tumors of the cartilage tissue - chondroma. Most often found in the area of the phalanges of the fingers and long tubular bones. As a result, the patient has a curvature of the arms and legs, they become shorter. In this case, secondary bone fractures often occur, impaired functioning of the limbs. In such a situation, there is a considerable risk that a malignant tumor begins to develop.
- Muffucci syndrome and multiple hemangiomas are interconnected. The latter are formations on the vessels that can be observed on the surface of the skin and mucous membrane. They can be diagnosed in the nose, in the tongue. Nodules have a bluish tint, soft. If damage to the formations occurs, significant bleeding occurs.
Tumors of the skin and vascular type are often observed in the patient at an early stage of the disease. They can quickly increase in size, change their structure, shape, color. Often accompanied by pain.
Causes of occurrence
So. Muffucci syndrome occurs for reasons unknown to science. Scientists are of the opinion that this serious violation is of a genetic type and is considered a malformation. As mentioned earlier, the disease is diagnosed at an early age and can accompany the patient for many decades, while complicating his life. With this pathology, the patient becomes disabled, as he is not able to not only do anything around the house, but even serve himself.
The disorder actively progresses as a person grows, after which the condition gradually stabilizes, but the appearance is already completely modified. If timely treatment is given, then it is possible to reduce the suffering of the patient and improve his appearance. Diagnosis of the syndrome is possible only in a hospital setting and using modern research methods. At the first suspicion, you should immediately seek qualified help and do not postpone the visit, as this can only exacerbate the situation.
Symptomatology
This syndrome is accompanied by severe external symptoms, as well as internal changes. Formations can be diagnosed both in all areas and in certain places. Angiomas with this disease resemble caves, occur along with skin lesions or earlier. When their sizes increase, and they become quite a lot, the patient begins to complain of pain and significant discomfort.
In medicine, such cases have been identified when, with Muffucci syndrome, damage was observed not only in the skin, but also in the internal organs. Also, pathology is manifested by such signs as:
- A large number of chondromas that occur during the period of growth and development of the child. In this case, the state stabilizes with the cessation of growth.
- Uneven distribution of chondrome throughout the body.
- Deviation, curvature and changes in bone tissue, which are accompanied by impaired functioning of the limbs. The patient becomes weak.
- Multiple fractures due to deformation of bones and cartilage.
Also, the patient may be diagnosed with other rare signs of pathology: vitiligo, atrophy of one of the cerebral hemispheres, the formation of a large number of pigmented moles. Different sizes and locations.
Diagnostics
In order to identify any internal abnormalities in Muffucci syndrome, it is recommended to conduct an x-ray examination of the entire body, preferably. Much attention in this situation is paid to those areas where tissue protrusion, changes and shortening of the limbs are observed. Radiological symptoms consist of signs of chondrodysplasia of varying severity.
In the pictures, a specialist can note an asymmetric lesion, which is characterized by a thickening of shortened and deformed bones of the tubular type. In this case, eccentric enlightenment is noticeable. Such a violation is often diagnosed in the pelvic region, on the shoulder blades, ribs. As the child grows, they are observed in tubular bones, where there are thickenings and curvatures, round-shaped enlightenments, enchondroma may be present.
Also, with Muffucci syndrome, an X-ray photo may show various shadows of phleboliths having a diameter of not more than 0.4 cm. They are easy to notice. They are homogeneous and have a clear outline.
Therapy
With this syndrome, the patient is recommended orthopedic treatment. If there is a change in bone tissue of the lower extremities, it is advised to wear special shoes. In the case when the patient suffers from significant tumor formations, which are caused by the growth of cartilaginous tissue, especially on the fingers of the upper and lower extremities, it is necessary to carry out excoculation, resection of the focus.
If the disease progresses strongly and shortening of the extremities is already observed, distraction is carried out at the level of cartilaginous tissue. In this situation, special equipment is necessarily used. To carry out the procedure, a specialist requires certain skills, knowledge and experience.
With valgus and varus curvatures of the lower extremities with Muffucci syndrome, treatment is based on lengthening the bone tissue of the damaged areas. If a patient is diagnosed with a lesion of the skin with hemangiomas and nevuses with this disease, surgery is performed, diathermocoagulation or cryodestruction.
Forecast, the danger of pathology
The prognosis for this syndrome in most cases is favorable. Especially with timely diagnostics and therapy. But, sometimes, a disease can trigger the development of malignant tumors, such as chondrosarcoma or angiosarcoma.
The pathology itself is considered complex and leads to disability. The patient is not able to move independently and perform basic actions. Also, hemangiomas can provoke significant bleeding, both external and internal. Tumors can be in the esophagus, larynx. In such a situation, the removal of formations must be carried out in order to save the patient from significant discomfort.
If you control the growth of cartilaginous tissue, this leads to the fact that the patient has causeless fractures, the body and limbs become asymmetric. But, the syndrome is of great danger only in the event of cellular degeneration and the formation of sarcoma.
Can a disease be prevented?
Since doctors still have not exactly determined the causes of this pathology, it is impossible to prevent the syndrome. Also, there are no preventive measures, because the disease has a genetic basis. In any case, if the patient is diagnosed with a violation, it is necessary to constantly be under the supervision of specialists, conduct timely examinations and treatment.
The syndrome is considered a mysterious disease from which no vaccine has yet been found, but scientists are striving for this. Be sure to take into account that the pathology refers to congenital, which appear at an early age. It is impossible to prevent the disease itself, but it is possible to improve the appearance, which changes due to deformation processes, using orthopedic and surgical methods. Thus, it is possible to facilitate the life of the patient and significantly improve his general condition. You can choose the right treatment only after a thorough examination. And this should be taken into account.