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

  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]

• Splenectomy

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

• Aspiration

  She underwent a convex-probe endobronchial ultrasound (CP-EBUS)-guided transbronchial needle aspiration (TBNA) that confirmed metastatic chondrosarcoma. [ncbi.nlm.nih.gov]

  The tumor was debulked with suction aspiration once its downward retraction was thought too dangerous. [scielo.br]

• 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]

• 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]

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.

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.