Severe Symptoms Of Maffucci Syndrome

Maffucci syndrome is a very rare skin and bone disorder characterized by multiple abnormal growths on an individual's boney tissues. These abnormal growths can cause numerous complications and are known to develop into malignant or cancerous masses. This disorder is caused by mutations in an individual's genes that occur spontaneously during fetal development or shortly following their birth. These mutations occur in the IDH1 and IDH2 genes and are not associated with a familial inheritance sequence. Diagnosis of Maffucci syndrome is made through a physical exam and assessment of several radiologic tests. Surgical excision of lesions can distinguish enchondromas from chondrosarcomas. For individuals who do not exhibit any symptoms, treatment is not needed. Medication, surgical procedures, diligent monitoring, and physical therapy are all methods used to treat individuals who have Maffucci syndrome.

Different symptoms and their effects dictate how an affected individual is treated.

Enchondromas

The first symptom that typically manifests in Maffucci syndrome patients is the development of one or more enchondromas in the individual's cartilage. An enchondroma is a form of noncancerous or benign bone tumor that initiates in the cartilage parts of the skeletal system. Most bones start off as cartilage and form into bones during an individual's fetal development or shortly after they are born. Enchondromas most often affect the type of cartilage present in the inside of an individual's bones. The most common places for enchondromas to develop are the tiny long bones of the feet and hands, the femur, humerus, and tibia. These benign growths cause the affected bones to become weak and distorted. Bone distortions that occur from enchondromas include bowing of the arms and legs, asymmetric growth, and bulging of the bones. In about half of all patients diagnosed with Maffucci syndrome, enchondromas only affect one side of the body. As the number of enchondromas in a patient's body increases, so does their likelihood of developing a malignant or cancerous tumor called chondrosarcoma.

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Short Stature

Individuals who have Maffucci syndrome often have a short stature throughout their adulthood. Short stature occurs when an individual does not grow to be the same height as others of the same age, gender, and ethnicity. Technically, an individual has a short stature if their height is under the third percentile for their age, gender, and weight. Because Maffucci syndrome causes abnormal cartilage tumor growths inside some of the major bones in a patient's body, the growth of such bones can be disrupted or impaired. Direct expansion of the growths in an individual's bones often causes decreased linear growth in the affected bones. The development and progression of the enchondromas in Maffucci syndrome patients may occur in locations that are too close to the individual's growth plates. If the growth plates in the affected bone become damaged, the bone will not grow to be as long as it should. Short stature is particularly associated with decreased linear growth of the long bones in a patient's legs.

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Underdeveloped Muscles

Some patients who have severe bone deformities because of Maffucci syndrome may experience underdeveloped muscles. This underdevelopment occurs because an individual's bones and muscles are closely linked to each other. When a joint or bone cannot function properly, the muscle that moves it will not be able to function properly. Several factors cause the bone deformities to have adverse effects on the growth and health of the corresponding muscles. Enchondromas can cause limited mobility in some joints or parts of the body. When there is limited mobility, the muscles are not being used the same as if there was full mobility. Decreased use of muscles can cause them to stop developing if the patient is still growing. In addition, bone deformities from enchondromas in affected individuals can cause them to have poor control of their posture. Poor postural control can lead to an asymmetrical imbalance in muscle mass when one muscle is being used more than it should be, and the other corresponding muscle is not being used. General inactivity from bone deformities due to pain and discomfort can result in underdeveloped muscles in affected individuals as well.

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Hemangiomas

Hemangiomas are a common symptom that manifests in Maffucci syndrome patients. This type of vascular malformation or mass is made up of a collection of blood vessels that are abnormal in structure but not malignant. Cavernous hemangiomas are a tangle of such abnormal blood vessels that contain multiple expanded caverns with slow-moving blood. These vascular lesions usually present when the patient is between four and five years old. They begin as round, bluish, soft spots that eventually become large, knotty, firm, and warty over time. Hemangiomas in individuals with Maffucci syndrome most commonly occur on the skin of the hands. They usually do not have a localized association with the patient's bones that contain enchondromas. In addition to the hands, these lesions may also form on the oral mucosa, the membranes that cover the spinal cord and brain, and the tongue. Phleboliths or stones made of calcium deposits may develop inside of an individual's hemangiomas over time.

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Osteolysis

Osteolysis is a condition characterized by the progressive destruction of bone tissue or the wearing down of the bones that often presents as a symptom in Maffucci syndrome patients. Osteolysis occurs when an individual's bones reabsorb old bone tissue without replacing it with new bone tissue. This happens in individuals affected by Maffucci syndrome because of the growth of enchondromas. Enchondromas grow and occupy space within the affected bone, which disrupts the body's delicate balance of bone breakdown and rebuilding. In a healthy individual, the osteoclasts in the bones break down old, damaged, or diseased bone tissue as the osteoblasts simultaneously build up new, healthy bone tissue in its place. A healthy balance of both processes allows the bone to maintain its integrity and strength. When there is an abnormal growth present inside of a bone, it can cause the osteoclasts to keep breaking down bone, while the osteoblasts do not deposit bone matrix for new bone. This leads to an uneven breakdown of bone without replacement. When this imbalance causes excessive thinning and weakening of the bones, it is called osteolysis.