Maffucci syndrome is an extremely rare tissue disorder of the mesoderm associated with multiple cartilage tumors. Because affected individuals are at increased risk of malignant degeneration, they must have their lesions checked regularly by orthopedists and dermatologists. To date, there is no causative therapy.
What is Maffucci syndrome?
Maffucci syndrome patients suffer from a developmental disorder of the mesodermal tissue. The disorder manifests as complex cartilaginous tumors of the mesoderm. The tumorous changes are predominantly benign in nature. In about 20 percent of all cases, malignant degeneration occurs in the course of life. The disease is thus associated with an increased risk of chondrosarcomas, hemangiomas and fibrosarcomas. Gliomas may also occur as part of the syndrome. Maffucci syndrome is also known as osteochondromatosis-hemangiosis syndrome or Kast syndrome. Pathologist Angelo Maffucci first described the tumor disorder in the 19th century. In the same century, Alfred Kast, together with Friedrich Daniel von Recklinghausen, documented the multiple cartilage tumor disease of the mesoderm in a paper. Maffucci syndrome is a rare disease that has been described only 250 times. It often breaks out between the ages of one and five and affects both males and females. The peak of the disease is puberty.
Causes
The causes of Maffucci syndrome have not yet been conclusively investigated. In most cases, the tumor disease occurs sporadically. Familial clustering has rarely been observed. In individual cases, the disease has been linked to an autosomal dominant inheritance. Nevertheless, it is not considered a hereditary disease. Presumably, mesodermal dysplasias in the early life of the patients are associated with the tumors instead of genetic factors. A geographical or ethnic clustering has not been observed so far. In 25 percent of those affected, the mesoderm abnormalities are already present immediately after birth. Therefore, the suspected association with previous dysplasia of the mesoderm is probably not the only link promoting the onset of the disease.
Symptoms, complaints, and signs
Immediately after birth, most patients with Maffucci syndrome are unremarkable and entirely asymptomatic. It is not until months after birth that often painful enchondromas develop. Lymphangiomas or hemangiomas also become apparent. They are located both on the skin and in the internal organs. The distribution of lesions is asymmetrical and not limited to one anatomical structure. During growth, affected individuals suffer from bone deformities that can cause pathological fractures. Initially, the enchondromas correspond to benign growths on the cartilage of the long bones or phalanges. Irregularly shaped and dark blue subcutaneous nodules on the capillaries of the limbs appear. Venous and lymphatic malformations may also occur. Usually, the disease is progressive with its individual symptoms.
Diagnosis and course of the disease
The diagnosis of Maffucci syndrome anchors in the clinical findings. Radiologic findings usually confirm the initial tentative diagnosis. Differentially, Ollier’s disease, in which multiple enchondromatosis without hemangiomas is present, should be considered first. Proteus syndrome should also be considered as a differential diagnosis. For patients with Maffucci syndrome, life expectancy is usually not decreased. However, the course of the disease is individual. The fractures and deformities only mildly limit many of the patients in their daily lives. In other cases, however, severe impairment is present due to severe disability. Because patients with this disease are usually well monitored throughout their lives due to the increased risk of degeneration, malignant processes are usually detected early enough to be treated appropriately. Often, the disease is arrested during life.
Complications
In most cases, Maffucci syndrome causes severe pain in patients. Since the symptoms do not occur immediately after birth but later, no early treatment of this disease is possible. Due to the pain, especially in small children or in babies, there is a strong pain and therefore a shrill crying. Deformities and growths occur on the bones.These have a very negative effect on the daily life of the affected person, so that there are restrictions in movement and general limitations in the daily life of the patient. The bones break down and various deformities occur throughout the body. It is not uncommon for those affected by Maffucci syndrome to be dependent on the help of other people in their daily lives or to suffer from very severe disabilities. The quality of life of the patients is considerably reduced and limited by Maffucci syndrome. The treatment of Maffucci syndrome depends on the symptoms. These can be alleviated by surgical interventions, although the disease does not progress positively in every case. In many cases, affected individuals are dependent on the help of other people throughout their lives.
When should you see a doctor?
If growing children show sudden changes in skin appearance, a doctor should be consulted to investigate the cause of the abnormalities. Swelling, discoloration and growths are considered unusual and are signs of a disorder present. If there is blue discoloration of the skin, there is cause for concern. A visit to the doctor is required so that treatment can be initiated as soon as possible. If the skin changes increase in intensity or gradually spread further on the body, action is required and a doctor should be consulted. Deformities of the bone structure, visual peculiarities of the skeletal system or problems with mobility should be examined and treated. If irregularities occur in areas of the body where cartilage is present during the growth process, a doctor is needed. If there are nodules on the limbs, repeated fractures or dysfunctions, a doctor’s visit is required. In case of a general feeling of illness, persistent malaise or behavioral disturbances of the child, a doctor should be consulted. In particular, asymmetric abnormalities in the growth process are an indication of a present disease as well as a special feature of Maffucci syndrome. If pain occurs, the child shows tearful behavior, disinterest in social activities increases, or school performance decreases, medical help is needed. Changes in personality are another sign of a health impairment that should be treated.
Treatment and therapy
Because the etiology of Maffucci syndrome is unknown, no causative therapy is yet available. Therefore, treatment is exclusively symptomatic and supportive. Early detection of malignant degeneration processes is the main focus of therapy. Patients undergo extensive examinations throughout their lives in order to detect possible degeneration of the lesions at an early stage. For this purpose, they visit orthopedic surgeons as well as dermatologists, who assess their multiple skin and bone findings for malignancy and document changes in the best possible way. Often, patients remain asymptomatic throughout their lives. In such a case, no symptomatic treatment is induced. However, even patients without symptoms are not spared regular check-ups. If pain or other complaints develop in the course of the disease, these manifestations are alleviated by the treating dermatologists and orthopedists with targeted symptomatic therapy. If sarcomatous tissue is present, the affected area is surgically removed. Correction of bone deformities or fractures is taken care of by the orthopedist. Treatment of hemangiomas is performed by the dermatologist. Since in individual cases the disease stops as early as the second decade of the affected person’s life, control of the lesions can also take place at wider intervals over time.
Outlook and prognosis
The prognosis of Maffucci syndrome is largely tied to the progression of the disease. Without medical care, there is repeated formation and development of mostly benign tumors. However, the risk of developing a malignant tumor is significantly increased in these affected individuals. In addition, limitations in the quality of life as well as numerous complaints that develop due to the disease are to be expected. Various therapeutic approaches are pursued with medical treatment.Although no causal treatment measure is available, a significant overall improvement in the situation can be achieved via symptomatic care as well as regular monitoring of the current state of health. In addition to alleviating the symptoms, the treating physicians focus on preventing an unfavorable course of the disease. In the event of malignant degeneration of the tissue changes, it should be possible to react as quickly as possible by taking the necessary measures. This procedure improves the prognosis as well as the general course of the disease. Nevertheless, the affected person normally has to undergo several surgical interventions in the course of his or her life. These are associated with risks and can lead to complications. If the course of the disease is very favorable, developments stagnate in the second half of life. Here, new tumors no longer form. Thus, a significant improvement is achieved.
Prevention
To date, the causes of Maffucci syndrome are more or less speculative. Because the etiology remains so unknown, there has been no promising prevention of the disease. However, affected individuals do prevent the degeneration of any lesions by having the abnormalities of their skin and bones assessed by a physician during close checkups.
Follow-up
Maffucci syndrome can cause significant discomfort or complications in the affected person, so this disease should ideally be detected and treated by a physician at a very early stage. As a rule, self-healing cannot occur. Those affected suffer from discomfort on the skin, with the formation of very painful areas on the skin. This not only has a negative effect on the quality of life, but the affected persons also suffer from their reduced aesthetics. This leads to inferiority complexes and, not infrequently, to depression or other psychological upsets. The support of a professional psychologist can help to gain self-confidence in dealing with the disease. The further course depends strongly on the manifestation of this disease, so that a general prediction is usually not possible.
What you can do yourself
The main focus of treatment for Maffucci syndrome is regular check-ups by a specialist. Close monitoring is necessary to detect any sarcomas early, especially chodrosarcomas, but also osteosarcomas, fibrosarcomas, and angiosarcomas. People in the second decade of life, in particular, should consult a physician regularly if there are corresponding previous illnesses or if there are already cases of Maffucci syndrome in the family. After a surgical procedure, the usual measures apply: The patient should take it easy for a few days to weeks, pay attention to good wound care and hygiene, and possibly change his or her diet. If bone deformities or fractures occur, treatment by the orthopedist is required. Occasionally, the patient may need a prosthesis or other orthopedic devices to continue moving without restriction. If the course is severe, therapeutic counseling is also indicated. Any fears can be worked through in a discussion with a psychologist. In this way, a certain quality of life can be maintained despite the disease. Typical accompanying symptoms such as pain or feelings of pressure in the area of the affected tissue or bone are treated by means of various medications, which can be supplemented with natural painkillers and sedatives in consultation with the physician.
