Maffucci syndrome is a very rare disorder in which multiple

benign tumor A benign tumor is a mass of Cell (biology), cells (tumor) that does not Cancer invasion, invade neighboring tissue or Metastasis, metastasize (spread throughout the body). Compared to Cancer, malignant (cancerous) tumors, benign tumors generally ...

s of

cartilage Cartilage is a resilient and smooth type of connective tissue. Semi-transparent and non-porous, it is usually covered by a tough and fibrous membrane called perichondrium. In tetrapods, it covers and protects the ends of long bones at the joints ...

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 i ...

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 The metaphysis (: metaphyses) is the neck portion of a long bone between the epiphysis and the diaphysis. It contains the growth plate, the part of the bone that grows during childhood, and as it grows it ossifies near the diaphysis and the epip ...

and diaphyses of the long bones and are common (26%). The risk for

sarcoma A sarcoma is a rare type of cancer that arises from cells of mesenchymal origin. Originating from mesenchymal cells means that sarcomas are cancers of connective tissues such as bone, cartilage, muscle, fat, or vascular tissues. Sarcom ...

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 Ollier is a surname. Notable people with the surname include: * Charles Ollier (1788–1859), publisher * Charly Ollier (born 1985), football player * Claude Ollier (1922–2014), writer * Cliff Ollier (born 1931), geologist * Edmund Ollier (1827 ...

, Maffucci syndrome, and

metachondromatosis Metachondromatosis is an autosomal dominant, incompletely penetrant genetic disease affecting the growth of bones, leading to exostoses primarily in the hands and feet as well as enchondromas of long bone metaphyses and iliac crests. This syndr ...

. 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 c ...

and phlebolith. Lymphangiomas may also be apparent.

Cause

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

Diagnosis

Differential diagnosis

In Ollier's 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 Rare syndromes