(muh-FOO-chee SIN-drome) A very rare disorder that affects the skin and cartilage. It is marked by benign (not cancer) growths of cartilage in bones. These growths usually occur in the hands or feet, but may also occur in the skull, ribs, and spine. They may cause severely deformed bone, shortening of the arms or legs, broken bones, and other bone problems. Maffucci syndrome is also marked by [[hemangiomas]] (benign blood vessel tumors) , most often in the skin. People with this syndrome have an increased risk of certain cancers, such as [[chondrosarcoma]] (cancer that forms in bone cartilage) or cancers of the ovary or liver. Maffucci syndrome is most common in young children.
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[[File:Enchondroma_-_very_high_mag.jpg|thumb|right|Histological image of an enchondroma, a common feature in Maffucci syndrome.]]
'''Maffucci syndrome''' is a rare, non-hereditary disorder characterized by the presence of multiple [[enchondromas]] and [[hemangiomas]]. It is a type of [[skeletal dysplasia]] that primarily affects the bones and skin.
Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide.
== '''Cause''' ==
=== Clinical Features ===
In most people with Maffucci syndrome, the disorder is caused by mutations in the '''IDH1 or IDH2 gene'''. These genes provide instructions for making enzymes called '''isocitrate dehydrogenase 1''' and '''isocitrate dehydrogenase 2''', respectively. These enzymes convert a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the enzyme produced from the respective gene to take on a new, abnormal function. Although these mutations have been found in some cells of enchondromas and hemangiomas in people with Maffucci syndrome, the relationship between the mutations and the signs and symptoms of the disorder is not well understood.
Maffucci syndrome is typically diagnosed in childhood or early adolescence. The hallmark features of the syndrome include:
Mutations in other genes may also account for some cases of Maffucci syndrome.
* '''Enchondromas''': These are benign cartilaginous tumors that develop within the bones. They are most commonly found in the long bones of the arms and legs, as well as in the hands and feet. Enchondromas can cause bone deformities, fractures, and limb length discrepancies.
== '''Inheritance''' ==
* '''Hemangiomas''': These are benign vascular tumors that appear as bluish or purplish lesions on the skin. They can also occur in internal organs.
Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A [[somatic]] mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism.
== '''Signs and symptoms''' ==
* '''Skeletal Deformities''': Due to the presence of multiple enchondromas, individuals with Maffucci syndrome may experience bone deformities, such as bowing of the limbs, and an increased risk of fractures.
It is characterized by multiple [[enchondromas]], which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.
Maffucci syndrome is distinguished from a similar disorder that involves enchondromas (Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels ([[hemangiomas]]). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have [[lymphangiomas]], which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body.
Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called [[chondrosarcomas]], especially in the skull. People with Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer.
=== Pathophysiology ===
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
The exact cause of Maffucci syndrome is not well understood, but it is believed to result from somatic mutations that occur after conception. This means that the mutations are not inherited from the parents but occur spontaneously in the affected individual.
80%-99% of people have these symptoms
=== Complications ===
* [[Hemangiomatosis]]
Individuals with Maffucci syndrome have an increased risk of developing [[chondrosarcoma]], a type of cancer that arises from cartilage cells. The risk of malignant transformation of enchondromas into chondrosarcomas is a significant concern in the management of the syndrome.
* Multiple [[enchondromatosis]]
* Osteolysis(Breakdown of bone)
* Venous thrombosis(Blood clot in vein)
30%-79% of people have these symptoms
* Bone pain
* Exostoses(Formation of new noncancerous bone on top of existing bone)
* [[Scoliosis]]
* Short stature(Decreased body height)
* Subcutaneous nodule(Firm lump under the skin)
5%-29% of people have these symptoms
=== Diagnosis ===
* [[Astrocytoma]]
Diagnosis of Maffucci syndrome is based on clinical examination and imaging studies. [[X-rays]] and [[MRI]] scans are used to identify the presence and extent of enchondromas and hemangiomas. A biopsy may be performed to rule out malignancy in suspicious lesions.
* Breast carcinoma(Breast cancer)
* Cerebral [[palsy]]
=== Treatment ===
* [[Chondrosarcoma]]
There is no cure for Maffucci syndrome, and treatment is primarily supportive. Management strategies include:
* Cranial nerve [[paralysis]]
* Dysphagia(Poor swallowing)
* Goiter(Enlarged thyroid gland in neck)
* Neoplasm of the adrenal cortex
* Ovarian neoplasm(Ovarian tumor)
* Parathyroid [[adenoma]]
* Pituitary adenoma(Noncancerous tumor in pituitary gland)
* Recurrent fractures(Increased fracture rate)
== '''Diagnosis''' ==
* '''Monitoring''': Regular follow-up with imaging studies to monitor the growth of enchondromas and hemangiomas.
The diagnosis of Maffucci syndrome is made by physical examination and radiologic assessment.Surgical removal and microscopic study of the skeletal lesions confirm the presence of [[enchondroma]] and distinguish the tumor from [[chondrosarcoma]].
* '''Surgical Intervention''': Surgery may be necessary to correct bone deformities, stabilize fractures, or remove tumors that are causing symptoms or have a high risk of malignancy.
* '''Pain Management''': Pain associated with bone deformities and fractures can be managed with medications and physical therapy.
== '''Treatment''' ==
== Related Pages ==
Management aims at relief of symptoms and early detection of malignancies.
* [[Enchondroma]]
Individuals with Maffucci syndrome may benefit from consultations with the following specialists:
* [[Hemangioma]]
'''Radiologist:''' [[Radiography]] or [[CT]]scanning performed periodically to evaluate bone changes.
* [[Chondrosarcoma]]
'''Orthopedic surgeon:''' An orthopedic surgeon may be consulted to evaluate bone changes and skeletal [[neoplasms]] and to help in treatment of fractures associated with the disease.
* [[Skeletal dysplasia]]
'''Dermatologist:''' A dermatologist may be consulted to evaluate [[hemangiomas]] associated with the condition and to identify any new lesions on the skin.
Histological image of an enchondroma, a common feature in Maffucci syndrome.
Maffucci syndrome is a rare, non-hereditary disorder characterized by the presence of multiple enchondromas and hemangiomas. It is a type of skeletal dysplasia that primarily affects the bones and skin.
Clinical Features
Maffucci syndrome is typically diagnosed in childhood or early adolescence. The hallmark features of the syndrome include:
Enchondromas: These are benign cartilaginous tumors that develop within the bones. They are most commonly found in the long bones of the arms and legs, as well as in the hands and feet. Enchondromas can cause bone deformities, fractures, and limb length discrepancies.
Hemangiomas: These are benign vascular tumors that appear as bluish or purplish lesions on the skin. They can also occur in internal organs.
Skeletal Deformities: Due to the presence of multiple enchondromas, individuals with Maffucci syndrome may experience bone deformities, such as bowing of the limbs, and an increased risk of fractures.
Pathophysiology
The exact cause of Maffucci syndrome is not well understood, but it is believed to result from somatic mutations that occur after conception. This means that the mutations are not inherited from the parents but occur spontaneously in the affected individual.
Complications
Individuals with Maffucci syndrome have an increased risk of developing chondrosarcoma, a type of cancer that arises from cartilage cells. The risk of malignant transformation of enchondromas into chondrosarcomas is a significant concern in the management of the syndrome.
Diagnosis
Diagnosis of Maffucci syndrome is based on clinical examination and imaging studies. X-rays and MRI scans are used to identify the presence and extent of enchondromas and hemangiomas. A biopsy may be performed to rule out malignancy in suspicious lesions.
Treatment
There is no cure for Maffucci syndrome, and treatment is primarily supportive. Management strategies include:
Monitoring: Regular follow-up with imaging studies to monitor the growth of enchondromas and hemangiomas.
Surgical Intervention: Surgery may be necessary to correct bone deformities, stabilize fractures, or remove tumors that are causing symptoms or have a high risk of malignancy.
Pain Management: Pain associated with bone deformities and fractures can be managed with medications and physical therapy.
