Ollier disease and maffucci syndrome are caused by somatic. Maffucci syndrome nord national organization for rare disorders. It was first reported by maffucci in 1881 after a 40yearold woman died from complications following amputation of an arm. Enchondroma with multiple angiomas maffucci syndrome was first reported by maffucci in 1881 after a 40yearold woman died from complications following amputation of an arm. Offline maffucci syndrome and olliers disease website. Maffucci syndrome ms is a rare congenital nonhereditary disorder manifested by endochromatosis dyschondroplasia and soft tissue hemangiomas, and having a high incidence of malignant. It is of particular interest because plastic and reconstructive surgery improved the appearance of the hand, reduced the size. Maffucci syndrome is an extremely rare disorder characterized by benign overgrowths of cartilage enchondromas, skeletal deformities and cutaneous lesions composed of abnormal blood vessels. Maffucci syndrome is a rare, sporadically inherited genetic disorder that does not display any sexual or racial predilections. The bone and vascular lesions exist at birth or occur during childhood and may be progressive. Maffucci s syndrome is a very rare form of enchondromatosis that combines multiple enchondromas in bones anywhere in the body with benign soft tissue tumors known as hemangiomas, which are associated with blood vessels. Adrienne flanagan and colleagues report the identification of somatic mosaic mutations in the idh1 and idh2 genes in tumors from individuals. Maffucci syndrome description, causes and risk factors. A case of myelopathy because of enchondromas from maffucci syndrome with successful surgical treatment.
Mafucci syndrome definition of mafucci syndrome by. Maffucci syndrome is characterized as benign noncancerous cartilage tumors that appears on the inside of the bone along with benign dark red or purplish skin growths consisting of tangles of abnormal blood vessels hemangiomas. Od is characterized by multiple enchondromas, typically unilateral in distribution with a predilection for the appendicular skeleton. Maffuccis syndrome definition of maffuccis syndrome by. However, some studies were reported for multiple enchondromatosis. This 15yearold male patient is followed up in our hospital since his birth, where an asymmetry between length of the legs was noticed. Who classification of tumours of soft tissue and bone, 4th ed. We report a 26yearold female who was diagnosed with maffucci syndrome along with sclerosing angiomatoid nodular transformation sant of the spleen. The disease manifests early on, sometimes at birth 25%, but usually around the age of 4. A rare genetic disorder characterized by benign cartilage overgrowths, skeletal deformities and dark red irregular skin patches. Maffuccis syndrome american journal of case reports. Maffucci syndrome and intracranial chondrosarcomas. Enchondromas of the limbs in association with venous and lymphaticovenous malformation. It is associated with heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 idh1idh2 genes.
If your institution subscribes to this resource, and you dont have a myaccess profile, please contact your librarys reference desk for information on how to. Maffucci syndrome is a rare congenital nonhereditary disease consisting of the development of multiple enchondromas, hemangiomas and, less commonly, lymphangiomas. Mar 21, 2020 the reason why patients develop maffucci syndrome is not well understood. Early radiological studies showed multiple radiolucent lesions in the distal ends of the tibias and fibulas. Maffucci syndrome is characterized by multiple enchondromas, which are noncancerous benign overgrowths of cartilage that develop within the bones and venous malformations with or without spindle cell hemangiomas 1. Patients with maffucci syndrome are at increased risk of developing different kinds of malignant tumors. Maffucci syndrome complicated by three different central nervous. The primary characteristic of maffucci syndrome is the occurrence of multiple benign cartilage tumors, called enchondromas, that occur throughout the bones of the skeleton. Maffuccis syndrome article about maffuccis syndrome by. Malignant transformation of mesenchymatous and nonmesenchymatous tumors has been reported more frequently in maffucci s syndrome than in olliers disease 4, 7, 9, 14, 23, 26. Herein, we report a patient with maffuccis syndrome and hemangiomas on the dorsum of the tongue, which is rare in this. Maffucci syndrome is characterized by the presence of multiple enchondromas, referred to as enchondromatosis, combined with multiple haemangiomas andor lymphangiomas.
Maffucci syndrome is a rare, sporadic genodermatosis affecting both males and females, which is associated with postzygotic somatic mutations in isocitrate dehydrogenase 1 and 2 genes. I surveyed most of the cases reported up to that time since the classic modern description of the syndrome in 1942 by carleton, elkinton, greenfield, and robbsmith. Common somatic alterations identified in maffucci syndrome by. The maffucci and olliers association was established for individuals, families and professionals to work together for these. Pdf on apr 25, 2014, joshua b elston and others published maffucci syndrome find, read and cite all the research you need. The skin lesions most commonly resemble blue, soft venous malformations, and also have some characteristics of other benign tumors growths. Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple cavernous hemangioma and phlebolith. Physical examination showed a marked shortening of both upper and. Dyschondroplasia and hemangiomata maffuccis syndrome. This is the second case reported in the literature of welldifferentiated chondrosarcoma arising in maffuccis syndrome with immunohistochemical studies. Maffucci syndrome causes, symptoms, diagnosis, treatment. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet.
More detailed information about the symptoms, causes, and treatments of maffucci syndrome is available below. To our knowledge, this case is the second to be reported. The maffuccis syndrome is mesodermic dysplasia characterized for the coexistence of subcutaneous vascular lesions fundamentally haemangiomas and enchondromas. Maffucci syndrome atlas of genetics and cytogenetics in. Ivosidenib is an idh1 inhibitor and achieved fda approval for treatment of patients. In addition to multiple enchondromas, maffucci syndrome is also characterized by the presence of red or purplish growths on the. The disease develops slowly, with enlargement of enchondromas and hemangiomas occurring during the first 2 decades of life. We present a case of a patient with maffucci syndrome and an associated chondrosarcoma of the nose. Both lesions tend to have an unilateral predominance albregts and rapini 1995.
The case of a 43yearold japanese man with multiple chondromas. Oct 19, 2005 maffuccis syndrome is a congenital nonhereditary syndrome characterized by a combination of enchondromatosis and hemangiomatosis. Patients are normal at birth and the syndrome manifests during childhood and puberty. Maffuccis syndrome ms is a congenital nonhereditary mesodermal dysplasia. Malignant transformation of mesenchymatous and nonmesenchymatous tumors has been reported more frequently in maffuccis syndrome than in olliers disease 4, 7, 9, 14, 23, 26. Maffucci syndrome genetic and rare diseases information. Pdf maffucci syndrome is characterized by the presence of multiple enchondromas, referred to as enchondromatosis, combined with. The enchondromas affect the extremities and their distribution is.
In 1955, i described two patients with maffucci s syndrome and an infant with lesions suggesting the same diagnosis. Maffucci syndrome is characterized by the presence of multiple enchondromas, referred to as enchondromatosis, combined with multiple haemangiomas andor lymphangiomas, as described by. Maffucci syndrome symptoms, diagnosis, treatments and. The cause of this syndrome remains unknown but seems to be nonhereditary, has no gender or racial predilection, and karyotypes. It appears sporadically in the population, and affects men and women alike. Although cases of lateonset maffucci syndrome have been reported, it usually manifests around age 45 years, affecting the hands or feet in a unilateral or. Maffucci syndrome is a rare disease involving multiple enchondromatosis and cavernous hemangiomas of the dermis, subcutis, or internal organs. Maffucci syndrome is a rare disease characterized by enchondromatosis in the presence of vascular lesions. The abnormal growths associated with maffucci syndrome may become cancerous malignant. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious. Maffucci syndrome is an extremely rare disorder that primarily affects the bones and skin. Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous benign growths of cartilage that develop within the bones.
Maffucci syndrome is characterized by the sporadic occurrence of multiple enchondromas together with multiple hemangiomas. If you have problems viewing pdf files, download the latest version of adobe reader. Adrienne flanagan and colleagues report the identification of somatic mosaic mutations in the idh1 and idh2 genes in tumors from individuals with ollier disease and maffucci syndrome, diseases. Maffucci definition of maffucci by medical dictionary. Maffucci syndrome medigoo health medical tests and free. This study reports the case of a woman whose disease is largely limited to the hands. Because of the rarity of the disease, specific genetic markers have long eluded association with this syndrome. The female patient with maffucci syndrome developed a chondrosarcoma of the femur at the age of 32 and a biliary adenocarcinoma at the age of 44, which she died from. Jul 28, 2014 maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous benign growths of cartilage that develop within the bones. We report on a 39yearold woman who was diagnosed with maffucci syndrome together with intrahepatic cholangiocarcinoma ihcc. Malignant transformation of these lesions is seen in up to 40% of the cases.
The tumors usually stop forming once the patient stop growing during early adulthood. The patient had frequent and severe hemorrhage from a vascular tumor for which she was admitted to the hospital. Jan, 2009 maffucci syndrome is a rare clinical entity characterized by multiple enchondromas, hemangiomas and, less often, lymphangiomas. Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterised by multiple enchondromas with softtissue venous malformations haemangiomas on imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grotesque, and soft tissue masses with phleboliths depicting haemangiomas. Maffucci syndrome is an extremely rare disorder characterized by benign. This signs and symptoms information for maffucci syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of maffucci syndrome signs or maffucci syndrome symptoms. Feb 27, 2016 the coexistence of maffucci syndrome with cholangiocarcinoma is rare. Enchondromas have a potential for malignant transformation and cause bone deformation, shortening, and fractures, while hemangiomas may cause severe bleeding. However, ongoing medical evaluation is crucial in order to monitor any changes of the skin and bones. In particular, affected individuals may develop bone cancers called. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for maffucci syndrome.
The multiple enchondromas and hemangiomas of maffucci syndrome affect the skin and skeletal systems. Maffuccis syndrome is often combined with other neoplasms. Although it is suspected that a gene mutation is the reason why people develop the syndrome, no specific gene has been identified as the cause. These abnormal growths can cause numerous complications and are known to develop into malignant or cancerous masses. Maffuccis syndrome is a rare nonhereditary mesodermal dysplasia. Maffucci syndrome is a rare congenital mesenchymal dysplasia characterized by multiple enchondromas and subcutaneous hemangiomas and first described by angelo maffucci in 1881. The hand in maffucci syndrome jama surgery jama network. Maffucci syndrome is a rare genetic disorder that affects both males and females. One of the hemangiomas was removed and examined pathologically. Med any combination of signs and symptoms that are indicative of a particular disease or disorder syndrome, mr. Maffucci syndrome is an exceedingly rare mesodermal dysplasia. In enchondromas and chondrosarcomas, mutations of the pthr1 gene was reported to be a candidate gene, however, subsequent studies could not confirm it hopyan 2002. Maffucci syndrome is a rare, nonhereditary disorder manifesting early in life. This is the second case reported in the literature of welldifferentiated chondrosarcoma arising in maffucci s syndrome with immunohistochemical studies.
It is characterized by the presence of hard cysts just beneath the skin and hemangiomas, abnormal lumps or tumors of blood vessels. Maffucci syndrome is a rare clinical entity approximately 200 cases have been reported in the medical literature with a combined occurrence of multiple enchondromas and vascular tumors. Sclerosing angiomatoid nodular transformation of the spleen. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. Chondrosarcoma of the nasal cavity in a patient with maffucci. The disease often develops in puberty 78%, but symptoms are present at birth or are observed in the first year of life in 25% of the cases. Maffuccis syndrome is a congenital nonhereditary syndrome characterized by a combination of enchondromatosis and hemangiomatosis. Maffucci syndrome ms and ollier disease od are nonhereditary congenital diseases characterized by multiple.
Maffucci s syndrome comprises of multiple venous malformations in combination with dyschondroplasia and a variety of cutaneous, vascular, chondro. Sclerosing angiomatoid nodular transformation of the. Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterized by multiple enchondromas with softtissue venous malformations hemangiomas on imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grotesque, and soft tissue masses with phleboliths depicting hemangiomas. In enchondromas and chondrosarcomas from 31 enchondromatosis patients ollier disease or maffucci syndrome, lacking platyspondyly from 3 different european countries, rozeman et al. Maffucci s syndrome synonyms, maffucci s syndrome pronunciation, maffucci s syndrome translation, english dictionary definition of maffucci s syndrome. The enchondromas is bony tumours characterized by the cartilage persistence in your metaphysic and epiphysic. The ipsilateral lower limb is usually involved, but the ipsilateral upper extremity or rarely a contralateral lower limb usually isolated may be.
Dec 17, 2014 maffucci syndrome is a rare, congenital, nonhereditary mesodermal dysplasia, manifested by multiple enchondromas and hemangiomas. May 24, 2017 maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 idh1 or idh2 mutations and is characterized by multiple enchondromas along with hemangiomas. The case of a 43yearold japanese man with multiple chondromas and hemangiomas maffucci syndrome is reported. It consists of multiple hemangiomas of the soft tissue and multiple enchondromas, which are most often found in the phalanges and long bones. Maffucci syndrome is a congenital, nonhereditary mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. Maffuccis syndrome is a rare congenital mesodermal dysplasia combined with dyschondroplasia and hemangiomatosis. Maffucci syndrome is a rare genetic disorder of unknown cause characterized by benign enlargements of cartilage enchondromas, bone deformities, and dark, irregularly shaped hemangiomas both deep and superficial.
Long term oncologic surveillance in maffucci syndrome. The presence of visceral vascular lesions in this syndrome is exceedingly rare. It is associated with an increased risk of malignancy. It is characterized by multiple enchondromas benign enlargements of cartilage, bone deformities, and hemangiomas tangles of abnormal of blood vessels. The maffucci and olliers association home facebook. Maffucci syndrome is a rare, congenital disease, which is associated with the appearance of multiple enchondromas possibility of malignant transformation in 20 to 100 %, soft tissue hemangiomas and other mesenchymatous injuries. Maffucci syndrome is a rare disorder where vascular malformations occur in the skin and internal organs and tumors occur in the bone. Maffucci syndrome is a disorder that primarily affects the bones and skin.
A 51yearold man who was diagnosed with maffucci syndrome at age 10 presented for curettage of an enchondroma and a bone graft in the right proximal phalanx of the thumb and the right third metatarsal. Ollier disease od and maffucci syndrome ms are characterized by multiple enchondromas. Maffucci syndrome, enchondroma, hemangioma, venous malformations. Airp best cases in radiologicpathologic correlation. Effects of the disease range from those requiring minor adjustments in activities of daily living to almost total incapacitation. Patients are normal at birth and the syndrome manifests during.
We report a case of a 24yearold woman who developed severe bone distortion due to generalized enchondromas since the age of 2 years. Maffucci syndrome genetic and rare diseases information center. Because of the multiple vascular lesions in the presence of. Maffucci syndrome was first described in 1881 by angelo maffucci. Maffucci syndrome ms is a rare congenital disorder characterized by multiple central cartilaginous tumors. Maffucci syndrome consists of skeletal chondromas and associated soft tissue angiomas. Maffucci syndrome is a condition that affects the bones, skin, and lymphatic system of the body. Maffucci syndrome is a very rare skin and bone disorder characterized by multiple abnormal growths on an individuals boney tissues. A 51yearold man who was diagnosed with maffucci syndrome at age 10 presented for curettage of an enchondroma and a bone graft in the right proximal phalanx of the thumb and the right third. Jun 07, 2017 maffucci syndrome is characterized by enchondromas with venous malformations with or without spindle cell hemangiomas. Case 1 is a 33yearold female who presented with multiple nodules. Maffucci syndrome is a rare disorder of bone and soft tissue characterized by. Jun 21, 2011 maffucci syndrome is a rare clinical entity approximately 200 cases have been reported in the medical literature with a combined occurrence of multiple enchondromas and vascular tumors. Natural history of ollier disease and maffucci syndrome.
In the 2002 world health organization classification maffucci syndrome is considered as a subclass of enchondromatosis. The lifespan is normal in the absence of severe complications. The syndrome is characterized by presence of multiple hemangiomas and enchondromas mostly affecting the extremities. Patients with ms also have benign vascular overgrowths that become malignant in 8.
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