Maffucci syndrome is a rare congenital nonhereditary disease consisting of the development of multiple enchondromas, hemangiomas and, less commonly, lymphangiomas. Enchondromas have a potential for malignant transformation and cause bone deformation, shortening, and fractures, while hemangiomas may cause severe bleeding. The lifespan is normal in the absence of severe complications.
Maffucci syndrome may sometimes be diagnosed at birth, but its typical features usually do not become apparent before the child reaches the age of 5 years. Equal race and sex predilection have been described . Lesions are unevenly distributed within the body. Patients may present with differences in limb lengths, but parents more often notice the presence of enchondromas in the epiphyseal areas of long bones, that may impair growth and lead to fractures or short stature in adulthood. Rib and skull involvement may also be present. Enchondromas located on only one-half of the body are not uncommon. When localized in the hands, they may lead to impaired manipulation of objects and when found in the feet, patients may have difficulty in walking. However, no major activity limitation is usually present. The other main trait of the disease is represented by hemangiomas, that may arise in various regions: anywhere on the surface of the skin, but also on the tongue, pharynx, intestinal or tracheal mucosa or leptomeninges. Their presence dictates clinical manifestations, as the patient may complain about gastrointestinal bleeding  or hemoptysis. Hemangiomas are not the only vascular abnormality, since Maffucci syndrome patients may also have lymphangiomas. Lymphangiectasia was also reported in three cases . The intelligence of affected individuals is normal.
Enchondromas have a potential for malignant transformation, turning into chondrosarcomas in 15-51% of cases , while hemangiomas may degenerate to vascular sarcomas in 3-5% of patients or to spindle cell hemangiomas. These are not the only malignancies these patients are prone to, being also at high risk for glioma, gastrointestinal or pancreatic adenocarcinoma, liver or ovarian cancer. Therefore, while performing the physical examination, the clinician should pay attention to any sign of disease related to the gastrointestinal or genitourinary system.
Entire Body System
- Soft Tissue Swelling
Association of soft-tissue swelling has been described in this syndrome but has not been listed as a sign or symptom. We report three cases in which the initial sign was diffuse swelling of the dorsum of the hand and/or foot. [ncbi.nlm.nih.gov]
Associations juvenile granulosa tumor of the ovary Plain radiograph Radiographic appearances are nearly pathognomonic, with multiple enchondromas seen associated with soft tissue swelling and phleboliths. [radiopaedia.org]
Soft tissue swelling from fore arm was also excised. This improved his hand appearence and function. Tissues were sent for histopathological examination. [webmedcentral.com]
Arch Med Health Sci 2014;2:263 Case Report A 49 year old lady presented with pain, restricted movements of right shoulder, and soft tissue swellings in right wrist. [amhsjournal.org]
- Pediatric Disease
Diseases Acrokeratoelastoidosis Acropustulosis of Infancy Acute Hemorrhagic Edema of Infancy Alezzandrini Syndrome Aplasia Cutis Congenita Asymmetric Periflexural Exanthem of Childhood Ataxia-Telangiectasia Atrophia Maculosa Varioliformis Cutis Bloom [dokterairlangga.com]
The patient underwent a laparoscopic splenectomy. [ncbi.nlm.nih.gov]
- Swelling of the Dorsum of a Hand
We report three cases in which the initial sign was diffuse swelling of the dorsum of the hand and/or foot. [ncbi.nlm.nih.gov]
Nakamura K, Matsushita T, Haga N, Manabe N, Ishida T, Kurokawa T (1999) Swelling of the dorsum of the hand and/or foot can be a first sign of Maffucci syndrome. Arch Orthop Trauma Surg 119:470–473 CrossRef PubMed Google Scholar 2. [dx.doi.org]
The clinical examination must be regularly carried out in order to screen for malignant transformation. If medical judgment recommends, the first step in monitoring suspicious lesions is represented by radiological evaluation. Plain radiographs of hands and feet may offer important information, but computer tomography or magnetic resonance imaging are sometimes needed to elucidate ambiguous aspects. Phleboliths and soft tissue edema or calcification may be described. Affected bones appear remodeled, with a thin cortex and evolving deformities, like bowing. A radiolucent area in a previously mineralized zone is also suspicious. Chondroid lesions have a typical arc-and-ring aspect . If cortical destruction or erosion are noticed, a bone biopsy should be performed. The presence of pleomorphic, poorly differentiated chondrocytes establishes a chondrosarcoma diagnosis .
In certain cases, several mutations can be noticed if gene analysis is performed: IDH1 or IDH2  or R132C mutation . PTHR1 gene was unaffected in most studies  , whereas others  described R150C mutation. In cases where digestive system bleeding is suspected or demonstrated by hemoccult test, a superior digestive endoscopy or colonoscopy is needed to establish the blood loss site and mechanism.
Treatment consisted of surgical resection. Because of the low grade of the tumor, additional treatment, such as radiotherapy, was not necessary. Maffucci syndrome is an exceedingly rare mesodermal dysplasia. [ncbi.nlm.nih.gov]
Treatment for Maffucci's syndrome If Maffucci's syndrome does not cause symptoms, treatment may not be necessary. However, ongoing medical evaluation is crucial in order to monitor any changes of the skin and bones. [summerlinfootandankle.com]
Studies evaluating the predictive value of clinical symptoms for development of secondary chondrosarcoma and prognosis are lacking. [ncbi.nlm.nih.gov]
Treatment and prognosis When there is a shortening of the involved limb, orthopaedical surgery for limb lengthening is usually performed during childhood. [radiopaedia.org]
A skilled medical professional can help manage your symptoms and improve your prognosis. [summerlinfootandankle.com]
Prognosis Patients with Maffucci syndrome usually lead reasonably normal lives with a normal life expectancy if no malignant transformation occurs. [emedicine.com]
The presence of two endocrine tumors suggested the syndrome of multiple endocrine adenomatosis, and raised the issue of an etiologic relationship between this disease and the Maffucci syndrome. [ncbi.nlm.nih.gov]
3673686 ) endocrine adenomatosis ( 12657 ) intracranial chordoma ( 8052391 ) acute lymphoid leukemia ( 8214367 ) acute myelocytic leukemia ( 2321048 ) carcinoma of the breast ( 2825361 ) fibroadenoma of the breast ( 7288688 ) mesothelioma ( 7112179 ) Etiology [humpath.com]
Its etiology is unknown and does not result from gross chromosomal abnormality. Maffucci described all the essential features of the disease, onset in childhood or adolescence, lack of family history. [webmedcentral.com]
63:400-2 First described by Angelo Maffucci in 1881, Maffucci syndrome, a subtype of enchondromatosis is an exceedingly rare, sporadic, and nonhereditary disease characterized by multiple enchondromas, haemangiomas, and lymphangiomas. Although the etiology [ijaweb.org]
Other malignancies associated with Maffucci syndrome include pancreatic and hepatic adenocarcinoma, ovarian tumors, brain gliomas, astrocytomas, and other types of sarcomas.  Epidemiology Frequency United States Maffucci syndrome is rare. [emedicine.com]
Treatment [ edit ] The deformities are managed surgically to preserve the function of the limb.  Epidemiology [ edit ] One person in every 100,000 is affected. [en.wikipedia.org]
Therefore, routine evaluation for involvement of the adrenal cortex may be warranted to improve our knowledge of this syndrome and of its pathophysiology. [ncbi.nlm.nih.gov]
Pathophysiology Maffucci syndrome affects the skin and the skeletal systems. Superficial and deep vascular lesions (venous malformations) often protrude as soft nodules or tumors, usually on the distal extremities, but they can appear anywhere. [emedicine.com]
The cause of this phenotypic variability and the exact pathophysiology of MS are still poorly understood. [omicsonline.org]
Treatment There is no way to prevent Maffucci syndrome. Treatment of the disorder is focused on addressing symptoms related to the multiple enchondromas. [verywellhealth.com]
Fiber-optic bronchoscopy and intubation must be preferred in these patients and contact of the bronchoscope or the endotracheal tube with haemangiomas must be avoided to prevent rupturing of any haemangiomas. [ijaweb.org]
Fibreoptic bronchoscopy and intubation must be preferred in patients with haemangiomas in the oral cavity and contact of the bronchoscope or the tube with hemangiomas must be prevented to avoid rupturing of any haemangiomas. [jnaccjournal.org]
Prevention Despite acceptance that Ollier's disease carries a risk of malignant change there is little in the literature to quantify the risk and no agreed protocol for screening. [patient.info]
- Kaplan R, Wang J, Amron D, et al. Maffucci's syndrome: two case reports with a literature review. J Am Acad Derm. 1993;29:894-899.
- Lee N, Choi E, Choi W, et al. Maffucci's syndrome with oral and intestinal haemangioma. Brit J Derm. 1999;140:968-969.
- Nakamura K, Matsushita T, Haga N, et al. Swelling of the dorsum of the hand and/or foot can be a first sign of Maffucci syndrome. Arch Orthop Trauma Surg 1999;119:470-473.
- Unger E, Kessler H, Kowalyshyn M, et al. MR imaging of Maffucci syndrome. AJR Am J Roentgenol. 1988;150(2):351-353.
- Flemming D, Murphey M. Enchondroma and chondrosarcoma. Semin Musculoskelet Radiol 2000;4:59-71.
- Albregts A, Rapini R. Malignancy in Maffucci's syndrome. Dermatol Clin. 1995;13(1):73-78.
- Pansuriya T, van Eijk R, d'Adamo P, et al. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.Nature Genet. 2011;43:1256-1261.
- Amary M, Damato S, Halai D, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nature Genet. 2011;43:1262-1265.
- Rozeman L, Sangiorgi L, Briaire-de Bruijn I, et al. Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat. 2004;24:466-473.
- Couvineau A, Wouters V, Bertrand G, et al. PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum. Molec. Genet. 2008;17:2766-2775.
- Hopyan S, Gokgoz N, Poon R, et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genet. 2002;30:306-310.