Maffucci Syndrome

What Is Maffucci Syndrome?

Maffucci Syndrome is an ailment that is seldom witnessed among the world’s population. This condition is characterized by swelling of the cartilage of the bone marrow otherwise known as enchondromas, dislocations in the backbone as well as cutaneous abrasions that are as a result of an anomalous in the circulatory system. Enchondromas cysts often appear in the bones, more frequently than not in the short bones rather than the legs.

Maffucci Syndrome

Signs & Symptoms

Maffucci syndrome does not express its characteristics at inception and therefore goes unrecognized. However, abrasions are apparent at the tender age. The symptoms manifest themselves in the age between 2-5 years. Despite the many similar signs among different patients, the nature, and severity of the disease range from one patient to another. In some cases, the progress and development of the ailment are gradual while in others the effects are rapid and grave.

After an infection, the primary most sign to observe will be an enchondroma in any of your long bones. These usually tend to garble and deteriorate any bone it comes across. Distortions and alteration of the bones by the cysts in the bone marrow may cause a pathological fracture.

The infected cartilage may cause the bulging and swelling of the bones. Advanced stages of the infection could lead to the bending and bow of the hands and legs. Additionally, there might be an uncontrolled and asymmetrical growth of the bones, where the lengths of the hands and legs are not equal. Some are elongated while others are shortened. In majority of the affected patients, the condition has adversely effected on either side of the body but not both.

In the early stages of growth, young ones with the disease show vascular abrasions on the skin. These increase gradually as time elapses. These lesions can form on any part of the body and not necessarily where the cysts have inhabited the bone marrow. The lesions begin as small, and round spots and later on harden to form calcium stones. These are mostly present on the hands but can develop on other parts including the internal organs such as brain, tongue, and meninges.

Maffucci Syndrome Picture 2

Prevalence to other infections

There are some infections that are more likely to be contracted by patients suffering from Maffucci syndrome and not others. Patients ailing from this disease are more prone to develop a cartilage tumor commonly known as chondrosarcoma. The risk of developing the tumor is attributed to the number of enchondromas.


Research has been done over the years, and in 2011, researchers came up with cutting edge information on the reasons of the syndrome. It was discovered that the syndrome is caused by the transformation and alteration of the gene IDH1. This happens soon after fertilization in what is termed as a somatic mutation. However, the condition cannot be passed to the descendants in a lineage and therefore ruled out to be hereditary.

Who are affected?

No one person is at a higher risk of contracting the infection than the other. The infections are random, and anyone can contract the disease regardless of their ethnicity and sex.

Similar and related disorders

There are some illnesses that are characterized by similar symptoms and can often give conflicting information. This can only be straightened out by undergoing a medical checkup to determine the cause of the problem. Such disorders include:

Blue Rubber Bleb Nevus Syndrome

This is a rare condition that exhibits similar characteristics as the Maffucci syndrome. The lesions present in both can be easily confused leading to failure to distinguish between the conditions. The many, soft swellings on the skin are same as those as those displayed by the Maffucci syndrome. These abrasions often appear on both hands and legs, neck and some internal organs. Internally, the abrasions spread to the entire body ranging from lungs, liver, and meninges.

Just like Maffucci, this syndrome is caused by somatic mutation. However, the gene-altered is TIE 2.

Ollier Disorder

This is an unlikely infection of the skeletal system that acts by bringing about an uneven and strange growth of the bones. The condition is also liable for the cysts that develop and denature the bone marrow. This is without the cutaneous abrasions that indicate the prevalence of Maffucci syndrome.

Though the condition is present at inception, the effects and extent of the infection will not be expressed until later on in the tender age. Similarly, Ollier disease affects the long bones and the cartilage on the joints. The condition involves the development of enchondromas from the cartilage such that the outer part becomes weak. As puberty sets in and the cartilage are replaced with bone, the condition stabilizes.

Proteus Syndrome

Another infrequent ailment which when surfaces, it depicts similar characteristics like Maffucci syndrome in a way that the two can be confused. This skeletal disease leads to the abnormal and asymmetrical growth of the limbs. The prevalence of the condition is attributed to somatic mutation of the gene AKT1 which occurs earlier in the embryonic period.

The ailment is not hereditary and cannot, therefore, be passed between members of a similar family line.


The ailment can only be correctly identified and controlled by a thorough and extensive checkup and radiologic examination. The abrasions are then removed through surgery and further examination insights the presence of enchondroma.


Before any standard of treatment can be passed to combat the ailment, the decision must be individual related. This means that the treatment offered for one patient cannot be followed to treat another as the control of the disease is dependent on the symptoms exhibited by the patient. However, the condition is left untreated in the case of asymptomatic patients.

The best way to control the effects of the disease is by incorporating all types of medical experts to coordinate in ending the menace.

The procedure kicks off by injecting the vascular abrasions with a sclerosing agent. This is followed by surgical procedures to get rid of enchondromas and pathological fractures.


All patients suffering from Maffucci syndrome should be keen to get often scrutinized to check for any abnormalities in the enchondroma. These may develop into tumors, and thus their growth should be monitored.

After entire control of malignancy, subjects can rest be assured that they will lead a normal life expectancy despite the physical attributes of the ailment that might still be present on the limbs.


Maffucci Syndrome Picture 2

Maffucci Syndrome Pictures


  1.  Faik A, Allali F, El Hassani S, Hajjaj-Hassouni N. Maffucci’s syndrome: a case report. Clin Rheumatol. 2006 Feb. 25(1):88-91.
  2. Tilsley DA, Burden PW. A case of Maffucci’s syndrome. Br J Dermatol. 1981 Sep. 105(3):331-6.
  3. Ngai C, Ding DY, Rapp TB. Maffucci Syndrome. An Interesting Case and a Review of the Literature. Bull Hosp Jt Dis (2013). 2015 Dec. 73 (4):282-5.
  4. Prokopchuk O, Andres S, Becker K, Holzapfel K, Hartmann D, Friess H. Maffucci syndrome and neoplasms: a case report and review of the literature. BMC Res Notes. 2016 Feb 27. 9:126

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