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 re ...
s of
cartilage
Cartilage is a resilient and smooth type of connective tissue. In tetrapods, it covers and protects the ends of long bones at the joints as articular cartilage, and is a structural component of many body parts including the rib cage, the neck an ...
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 by ...
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
Angelo Maria Maffucci (October 27, 1847 – November 24, 1903) was an Italian pathologist of the nineteenth century. His most important scientific contribution is related to the description of the disease known as Maffucci’s Syndrome. 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 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 epiphyses. The metaph ...
and
diaphyses
The diaphysis is the main or midsection (shaft) of a long bone. It is made up of cortical bone and usually contains bone marrow and adipose tissue (fat).
It is a middle tubular part composed of compact bone which surrounds a central marrow cavity ...
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 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 disease is a rare sporadic nonhereditary skeletal disorder in which typically benign cartilaginous tumors (enchondromas) develop near the growth plate cartilage. This is caused by cartilage rests that grow and reside within the metaphysis o ...
, 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 ca ...
and
phlebolith
A phlebolith is a small local, usually rounded, calcification within a vein. These are very common in the veins of the lower part of the pelvis, and they are generally of no clinical importance. When located in the pelvis they are sometimes difficu ...
.
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 for ...
s may also be apparent.
Cause
Maffucci syndrome is most commonly caused by mutations in the
IDH1
Isocitrate dehydrogenase 1 (NADP+), soluble is an enzyme that in humans is encoded by the ''IDH1'' gene on chromosome 2. Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two ...
or
IDH2
Isocitrate dehydrogenase ADP mitochondrial is an enzyme that in humans is encoded by the ''IDH2'' gene.
Isocitrate dehydrogenases are enzymes that catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to tw ...
gene.
Diagnosis
Differential diagnosis
In
Ollier disease
Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign cartilaginous tumors (enchondromas) develop near the growth plate cartilage. This is caused by cartilage rests that grow and reside within the metaphysis o ...
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.
See also
*
Ollier disease
Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign cartilaginous tumors (enchondromas) develop near the growth plate cartilage. This is caused by cartilage rests that grow and reside within the metaphysis o ...
*
Njolstad syndrome
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
*
References
External links
Malfucci syndromeat Genetics Home Reference
*
{{Osteochondrodysplasia
Syndromes with tumors
Vascular-related cutaneous conditions
Genetic disorders with OMIM but no gene