Maffucci syndrome is a very rare disorder in which multiple

benign tumor A benign tumor is a mass of cells (tumor) that does not invade neighboring tissue or metastasize (spread throughout the body). Compared to malignant (cancerous) tumors, benign tumors generally have a slower growth rate. Benign tumors have r ...

s of cartilage develop within the bones (such tumors are known as

enchondroma Enchondroma is a type of benign bone tumor belonging to the group of cartilage tumors. There may be no symptoms, or it may present typically in the short tubular bones of the hands with a swelling, pain or pathological fracture. Diagnosis is ...

s). The tumors most commonly appear in the bones of the hands, feet, and limbs, causing bone deformities and short limbs. It is named for the Italian pathologist Angelo Maffucci who described it in 1881. Fewer than 200 cases of this syndrome have been reported.

Signs and symptoms

Patients are normal at birth and the syndrome manifests during childhood. The enchondromas affect the extremities and their distribution is asymmetrical. The most common sites of enchondromas are the metacarpal bones and phalanges of the hands. The feet are less commonly affected. Disfigurations of the extremities are a result. Pathological fractures can arise in affected metaphyses and diaphyses of the long bones and are common (26%). The risk for

sarcoma A sarcoma is a malignant tumor, a type of cancer that arises from transformed cells of mesenchymal (connective tissue) origin. Connective tissue is a broad term that includes bone, cartilage, fat, vascular, or hematopoietic tissues, and sa ...

tous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15–30% in the setting of Maffucci syndrome. Maffucci syndrome is associated with a higher risk of CNS, pancreatic, and ovarian malignancies. Multiple enchondromas may present in three disorders: Ollier disease, Maffucci syndrome, and metachondromatosis. It is important to make the distinction between these diseases, particularly Ollier disease and Maffucci syndrome. Ollier disease is more common than Maffucci syndrome, and presents with multiple enchondromas often in a unilateral distribution. However, hemangiomas and lymphangiomas are not seen in Ollier disease. Metachondromatosis demonstrates autosomal-dominant transmission and presents with both multiple osteochondromas and enchondromas. It is associated with multiple

cavernous hemangioma Cavernous hemangioma, also called cavernous angioma, venous malformation, or cavernoma, is a type of venous malformation due to endothelial dysmorphogenesis from a lesion which is present at birth. A cavernoma in the brain is called a cerebral ...

and phlebolith.

Lymphangioma Lymphangiomas are malformations of the lymphatic system characterized by lesions that are thin-walled cysts; these cysts can be macroscopic, as in a cystic hygroma, or microscopic. The lymphatic system is the network of vessels responsible fo ...

s may also be apparent.

Cause

Maffucci syndrome is most commonly caused by mutations in the IDH1 or IDH2 gene.

Diagnosis

Differential diagnosis

In Ollier disease isolated enchondromas are present without the presence of hemangiomas.

Management

Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities.

References

External links

Malfucci syndrome
at Genetics Home Reference * {{Osteochondrodysplasia Syndromes with tumors Vascular-related cutaneous conditions Genetic disorders with OMIM but no gene