Maffucci syndrome is a serious disease that belongs to congenital pathologies and is not inherited. Accompanied by changes in bone and cartilage tissues, the patient has irregularly shaped growths 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. Maffucci syndrome and Olier's disease are similar to each other, so differential diagnosis is carried out.
When was the disease first diagnosed?
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 general well-being. For the first time, the violation was identified by the doctor A. Maffucci in 1881, after whom the syndrome was named. He discovered volumetric formations on the extremities of a maturewomen who completely restricted her movements.
Also, with this disease, a deformation of the skeleton is necessarily detected, which can be easily seen on x-rays. The woman also had them. All external signs of deviation were removed by surgical intervention. As a result of the operation, an infection was introduced, which provoked the death of the patient.
Maffucci syndrome: frequency of occurrence? This pathology is diagnosed quite rarely. With such a violation, a patient with properly selected therapy can live up to 40 years, but it should be understood that the disease will cause him considerable discomfort and pain.
What is Maffucci 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 cartilage tumors - chondromas. Most often found in 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 fractures of bones, impaired functioning of the limbs often occur. In such a situation, there is a considerable risk that a malignant tumor will begin to develop.
- Maffucci syndrome and multiple hemangiomas are interconnected. The latter are formations on the vessels thatcan be observed on the surface of the skin and mucous membranes. Can be diagnosed in the nose, on the tongue. The nodules have a bluish tint, soft. If damage occurs to the formations, significant bleeding occurs.
Tumours of the skin and vascular type are often observed in a 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. Maffucci syndrome occurs for reasons unknown to science. Scientists are of the opinion that this serious violation belongs to the 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 unable not only to do something around the house, but even to 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 therapy is carried out, then it is possible to reduce the suffering of the patient and improve his appearance. It is possible to diagnose the syndrome only in a hospital setting and with the help of modern research methods. At the first suspicion, you should immediately seek qualified help and not postpone the visit, as this can only aggravate the situation even more.
Symptomatics
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 in this disease resemble caves, occur together with skin lesions or earlier. When their size increases, and there are enough of them, the patient begins to complain of pain and significant discomfort.
In medicine, cases have been identified when, with Maffucci syndrome, damage was observed not only to the skin, but also to 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. At the same time, the state stabilizes with the cessation of growth.
- Uneven distribution of chondromas throughout the body.
- Deviation, curvature and changes in bone tissue, which are accompanied by impaired functioning of the limbs. The patient becomes infirm.
- Multiple fractures due to bone and cartilage deformities.
Also, the patient can 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. Various sizes and arrangements.
Diagnosis
To detect any internal abnormalities in Maffucci syndrome, it is recommended to conduct an X-ray examination, preferably of the whole body. Great care in this situationis given to those areas where there is a protrusion of tissues, changes and shortening of the limbs. X-ray symptoms consist of signs of chondrodysplasia of varying severity.
In the pictures, the specialist can note an asymmetric lesion, which is characterized by a thickening of shortened and deformed bones of the tubular type. At the same time, eccentric enlightenments are noticeable. Such a violation is very often diagnosed in the pelvic region, on the shoulder blades, ribs. As the child grows, they are observed in the tubular bones, where there are thickenings and curvatures, enlightenments of a rounded shape, enchondromas may be present.
Also, with Maffucci syndrome, an x-ray photo can show various shadows of phleboliths with a diameter of no more than 0.4 cm. They are easy to notice. They are homogeneous and have a clear outline.
Therapy
In this syndrome, the patient is recommended orthopedic treatment. If there is a change in the 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 excochleation, resection of the focus.
If the disease progresses strongly and shortening of the limbs is already observed, distraction is performed at the level of cartilage tissue. In this situation, special equipment is required. To carry out the procedure, a specialist requires certain skills, knowledge and experience.
With valgus and varus curvature of the lower extremities in Maffucci syndrome, treatment is based on lengthening the bone tissue of the damaged areas. If, with this disease, the patient is diagnosed with lesions of the skin with hemangiomas and nevi, surgical intervention, diathermocoagulation or cryodestruction is performed.
Prognosis, danger of pathology
The prognosis for this syndrome is favorable in most cases. Especially with timely diagnosis and treatment. But, sometimes, the disease can provoke 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 elementary actions. Also, hemangiomas can provoke significant bleeding, both external and internal. Tumors can be located in the esophagus, larynx. In such a situation, removal of formations must be carried out in order to save the patient from significant discomfort.
If you control the growth of cartilage tissue, this leads to the fact that the patient has unreasonable fractures, the body and limbs become asymmetrical. But, the syndrome poses a great danger only in the event of cellular degeneration and the formation of sarcoma.
Can the disease be prevented?
Since doctors have not yet accurately established the causes of this pathology, it is impossible to prevent the syndrome. There are also no preventive measures, because the disease has a genetic basis. In any case, if a patient is diagnosed with a disorder, it is necessary to constantly be under the supervision of specialists, conduct timely examinations and treatment.
The syndrome is considered a mysterious disease for which no vaccine has yet been found, but scientists are working towards it. It must be taken into account that the pathology is congenital, which manifests itself 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 make life easier for the patient and significantly improve his general condition. It is possible to choose the right treatment only after a thorough examination. And this should be taken into account.
