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 [1]. 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 [2] or hemoptysis. Hemangiomas are not the only vascular abnormality, since Maffucci syndrome patients may also have lymphangiomas. Lymphangiectasia was also reported in three cases [3]. The intelligence of affected individuals is normal.

Enchondromas have a potential for malignant transformation, turning into chondrosarcomas in 15-51% of cases [4], 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.

• 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

  Cutaneous Protothecosis Dermatologic Manifestations of Filariasis Dermatologic Manifestations of Onchocerciasis (River Blindness) Lice Organism-Specific Therapy Pediculosis and Pthiriasis (Lice Infestation) Scabies Scabies Organism-Specific Therapy Pediatric [dokterairlangga.com]

• Splenectomy

  The patient underwent a laparoscopic splenectomy. [ncbi.nlm.nih.gov]

• Palpitations

  […] chondrosarcoma of the left tibia, Kaposi’s sarcoma (non-human immunodefiency virus), neurofibromatosis, hypertension, chronic atrial fibrillation, and gastroesophageal reflux disease presented to the emergency room with a chief complaint of recent-onset chest palpitations [anesthesiology.pubs.asahq.org]

• Hand Deformity

  These cases emphasize the importance of early diagnosis of Ollier Disease and Maffucci Syndrome, as these two conditions are associated not only to crippling hand deformity, but also to a significant risk of chondrosarcoma, and other malignant tumors. [ncbi.nlm.nih.gov]

• Average Intelligence

  Patients apparently are of average intelligence, and no associated mental or psychiatric abnormalities seem to be present. About 160 cases of Maffucci syndrome have been published in the English literature. [3, 4, 5, 1] Note the image below. [emedicine.com]

  Patients apparently are of average intelligence, and no associated mental or psychiatric abnormalities seem to be present. A 30 year male presented with multiple swellings of both hands (Fig.1). He noticed them at the age of 4. [webmedcentral.com]

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 [5]. If cortical destruction or erosion are noticed, a bone biopsy should be performed. The presence of pleomorphic, poorly differentiated chondrocytes establishes a chondrosarcoma diagnosis [6].

In certain cases, several mutations can be noticed if gene analysis is performed: IDH1 or IDH2 [7] or R132C mutation [8]. PTHR1 gene was unaffected in most studies [9] [10], whereas others [11] 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.

• Mediastinal Mass

  The lesions often arise from venous or lymphatic channels and can spread to form highly vascular mass in the trunk, such as the mediastinal mass seen in the patient described above. 3 Although the clinical classification of Maffucci syndrome is well defined [anesthesiology.pubs.asahq.org]

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]

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]

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]

The rate of chondrosarcoma in Ollier's disease has been estimated at 30-50%. [ 6 ] Prognosis [ 1 ] The prognosis for Ollier's disease is difficult to assess as there is a paucity of peer-reviewed research and much of it is contradictory. [patient.info]

A skilled medical professional can help manage your symptoms and improve your prognosis. [summerlinfootandankle.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]

The etiology of enchondromatosis has been associated with post-zygote state mutations during development. [radiopaedia.org]

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]

Other malignancies associated with Maffucci syndrome include pancreatic and hepatic adenocarcinoma, ovarian tumors, brain gliomas, astrocytomas, and other types of sarcomas. [5] Epidemiology Frequency United States Maffucci syndrome is rare. [emedicine.com]

Treatment [ edit ] The deformities are managed surgically to preserve the function of the limb. [4] 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]

The cause of this phenotypic variability and the exact pathophysiology of MS are still poorly understood. [omicsonline.org]

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]

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]

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]

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]

1. 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.
2. Lee N, Choi E, Choi W, et al. Maffucci's syndrome with oral and intestinal haemangioma. Brit J Derm. 1999;140:968-969.
3. 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.
4. Unger E, Kessler H, Kowalyshyn M, et al. MR imaging of Maffucci syndrome. AJR Am J Roentgenol. 1988;150(2):351-353.
5. Flemming D, Murphey M. Enchondroma and chondrosarcoma. Semin Musculoskelet Radiol 2000;4:59-71.
6. Albregts A, Rapini R. Malignancy in Maffucci's syndrome. Dermatol Clin. 1995;13(1):73-78.
7. 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.
8. 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.
9. 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.
10. 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.
11. Hopyan S, Gokgoz N, Poon R, et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genet. 2002;30:306-310.