Maffucci syndrome (chondrodysplasia with angiomatosis): causes and treatment photos of patients
Maffucci syndrome: causes and treatment of a rare pathology
A syndrome of Maffucci or chondrodysplasia with angiomatosis is a rare congenital disease, not inherited, bearing deformation of bones, cartilage and limbs with numerous growths of irregular shape on the surface of the skin.
Most often, tumors in the form of nodules growing on the limbs, completely altering and deforming them.
The first case of the disease
The disease manifests usually in early childhood and gradually progresses, bringing all the suffering. For the first time a case of this disease was first described in 1881 by a physician pathologist A. Maffucci. It was a woman 40 years old with a volumetric growths on the hands and feet that are completely deprived of its independence and ability to walk, to work, to carry out basic things.
Skeletal deformities were detected by x-ray symptoms of the disease, it was decided to remove. The operation resulted in the patient’s blood became infected, from which she died.
Maffuci syndrome – an extremely rare occurring disease. Thus, since its discovery in England revealed 160 cases in the US – 100. The average life expectancy of patients is 40 years.
What is the disease?
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A syndrome of Maffucci accompany:
- Chondroma – initially benign tumors of cartilage, most commonly in the phalanges and long tubular bones. Resulting in asymmetrical distortion and shortening of the limbs may occur secondary fractures. Disturbed functioning of the limbs and there is a high risk degeneration into malignancy (30-37%).
- Multiple hemangiomas – vascular formation on the surface of the skin and mucous membranes. There are cases of the presence of formations in the nasal cavity, on the tongue, abdominal wall, etc. Are the soft nodules bluish color, if the damage which can lead to excessive bleeding.
From the point of view of the structure of the hemangioma, it is thick-walled and thin-walled cells of the skin and subcutaneous vessels lined with endothelium. They could be called complex venous malformations.
So-called cutaneous vascular tumor, appearing at an early stage of the disease, quickly increase in size, become soft, bluish rounded, sometimes painful skin formations, often in areas of altered bone.
They grow along with the growth of the child, and tend to change hands and feet in an ugly mass in the form of bunches of grapes.
This process is accompanied by abnormal growth of cartilage and bone tissues of the extremities and metafit long bones.
Active development of the disease lasts until the end of skeletal growth, is accompanied by spontaneous fractures and irreversible deformations, both internal and external.
Causes of genetic plan
The causes of the manifestations of the syndrome of Maffucci still a science has not been studied. We only know that this is a rare genetic malformation person.
Manifested at an early age, there are cases when the beginnings of the disease were found in seven-month-old child and actively progresses with the growth of the person, then the state stabiliziruemost.
Manifests itself as an anomaly?
The first symptoms of a sick child are the most common with the start of the walk and are as follows:
- deformation of bones, lameness, shortening of limbs;
- unexplained bone fractures;
- education suspicious growths on the skin.
There are also a number of possible anomalies, occurring not always:
- heterogeneous spots of vitiligo on the neck, chest, legs and other areas;
- atrophy of one half of the brain;
- a large number of moles of different sizes and locations.
The clinical picture depends on the localization of tumors. Often, the first cartilaginous tumors are formed without any symptoms, manifesting themselves already having reached a certain size and destructurization of the bones.
Diagnosis of the syndrome
Diagnosis of the syndrome is based on the total clinical picture and results of research. As a rule, is assigned to the x-ray examination of the human skeleton and histological study of cutaneous neoplasms.
Cartilaginous tumors, destructive and deforming bone is well visualized on the radiograph. They have a characteristic appearance and are easily identified.
In cases where x-rays do not accurately diagnose, appointed by computer or magnetic resonance imaging, a biopsy to determine the nature of tumors.
Histology of tumors
This analysis is necessary because there is a greater risk of the transition of benign tumors to malignant chondrosarcoma, and others.
Approach to therapy
Despite the level of development of modern medicine, medical treatment of the syndrome of Maffucci does not exist. Used orthopedic and surgical treatment.
Thus, the slight strain stop correcting orthopedic shoes.
In more complex cases with bulky tumors and serious deformation is shown excelasia – removal of the lesion with subsequent replacement of the bone implant.
Shortening of one limb relative to another eliminate the closed method using the distraction epiphysiolysis – using special medical devices for bloodless limb lengthening (for example, the apparatus Elizarova).
In the presence of the ossified lesions of growth cartilage shows osteotomy surgery with dissection of bone, and further activities to lengthen it.
The formation of skin removed through surgery diathermocoagulation (cauterization), or cryotherapy (destroying with cold).
A syndrome of Maffucci affects primarily the quality of human life, changes in the skeleton and on the surface of the skin, progressing, highly restrict the patient’s movements, treat yourself, work and so on.
The threat to the life of the patient may occur during the transition of cells of tumors from benign to malignant structures. Then apply the standard methods of struggle with cancer.
The difficulties and danger
Chondrodysplasia with angiomatosis – in itself a very complex disease. A large number of hemangiomas of the extremities can lead to the fact that the person is not able to move independently and care for themselves.
As entities with a large number of vessels, hemangiomas can lead to profuse bleeding, including internal, as there were cases removal of these tumors from the esophagus, larynx, abdomen, etc.
Uncontrolled proliferation of cartilage is fraught with spontaneous fractures, not to mention the asymmetry of the body and limbs.
The biggest threat to life is, of course, the rebirth of cells and the formation of sarcoma.
To prevent impossible
As the nature of the disease is still not fully understood, what is clear is that the case in genetics, ways of prevention of the syndrome of Maffucci does not exist.
People suffering from such illness should be timely to see a specialist and be monitored to control the process of the disease.
A syndrome of Maffucci – another mysterious illness, the etymology of which is not clear so far. Genetic congenital disease manifested at an early age and progresses throughout the period of growth of the human skeleton.
Cartilage growing, modifies and disfigures bones. Hemangioma, in turn, cover the outer surface of the body, usually in places where the structure of the skeleton is broken, negatively affect the appearance and functional features.
Unfortunately, completely heal currently impossible. The strength of the medicine orthopedic and surgical methods to correct deformation, facilitating the patient’s existence.
That a small percentage of the population that suffers from this disease need to carefully monitor its current, timely surgery and not to run it because there is a big risk of changes in the structure of the cells of the tumors in different types of sarcoma.