Imaging characteristics in Maffucci syndrome – case presentation

Introduction

Maffucci syndrome (MS) is a very rare congenital disease characterized by enchondromas and venous abnormalities like soft tissue hemangiomas and lymphangiomas. Since its first description in 1881, by the Italian physician Angelo Maffucci, around 200 cases have been reported in the literature. Maffucci syndrome normally appears at the age of 4-5 years old, and has no sexual or ethnic predisposition, or a genetic pattern of inheritance. Patients with Maffucci syndrome have an increased risk of malignant transformation, enchondromas becoming chondrosarcomas, and hemangiomas having a risk of transformation in angiosarcomas.

Case report

A 13-year-old boy with swelling and multiple abnormalities of the upper and lower extremities, pain and asymmetric blue subcutaneous nodules in various areas of the face, particularly in the submandibular region, body and extremities, was referred to the radiology and imaging department for a complete imaging evaluation: radiography of the upper right extremity (Figure 1A), radiography of the left lower extremity (Figure 1 B, C), chest radiography (Figure 2A), pelvic bones radiography (Figure 2B), computed tomography (CT) of the thorax (Figure 3A), abdomen (Figure 3B) and pelvic regions (Figure 3C), and head and neck non-enhanced and enhanced magnetic resonance imaging (Figure 4) in T2 weighted image in axial plane (Figure 4 A, B, C) and T1 weighted image after i.v. injection of paramagnetic Gd-based contrast material (Gd-DTPA) in sagittal plane (Figure 4 D, E) were performed.
 

Imaging findings

Plain radiographs revealed typical findings compatible with Maffucci syndrome involving the bone structures (scapula, humerus, ribs, both femoral bones, tibia, fibula, radius, ulna, pelvic bones and lower lumbar vertebrae) but also the subcutaneous structures (Figure 2). Enchondromas (benign cartilage enlargements) are radiolucent tumoral lesions with osseous expansile remodeling bone, calcifications, described as rings and arcs (white arrows) in association with vascular tumors localized into the adjacent soft tissues having phleboliths (dotted arrows).

The CT characteristics of enchondromas are: endosteal lesions with a lobular morphology and variable mineralization. Frequently, the mineralization is in the form of rings and arcs, which correspond to calcification around lobules of cartilage⁽³⁾.

At MRI, enchondromas appear as well-circumscribed, somewhat lobulated masses replacing bone marrow with intermediate to low signal inT1 wi; internal foci of T1 low signal of rings and arcs characteristic of a chondroid matrix. In T2 wi, enchondroma is predominantly hyperintense and sharply defined: internal foci of low signal of rings and arcs characteristic of a chondroid matrix. After Gd contrast material i.v. injection, there is an enhancement of the scalloped margins with curvilinear intra­lesional septa – rings and arcs enhancement^(3,13).

Discussion

Maffucci syndrome is a congenital mesodermal dysplasia that affects both males and females, characterized by multiple enchondromas and hemangiomas and, less often, lymphangiomas^(1-4). Maffucci syndrome affects less than 1 in every 100,000 people. The cause of Maffucci syndrome is unclear^(3-5). Maffucci syndrome has no familial pattern of inheritance and appears sporadically. It occurs in all races with no sex predominance^(1-5). The median time for symptoms’ onset is four years^(5,6). A large variety of benign and malignant mesodermal tumors have been reported in this syndrome^(6-10). Enchondromas and hemangiomas can occur anywhere, but the hands are most commonly involved^(1,10). Enchondromas are benign cartilaginous tumors that may develop in any site, being most frequently found in phalanges (Figure 1), but they may also affect long bones such the humerus, radius and ulna (Figure 1A), the femur, tibia and fibula (Figure 1 B, C) and, less frequently, the ribs (Figure 1B and Figure 2A) or the sphenoid bone (Figure 4 B-E). Long bone involvement is common, resulting in progressive deformity (Figure 1) and pathologic fractures. The malignant transformation appears in about 25% of cases. Sarcomatous transformation may be seen in bones and soft tissue lesions, but it is more frequently found in enchondromas (Figures 1-3), and its incidence ranges from 15% to 57%^(3,7-9). In most cases, enchondroma and a low-grade chondrosarcoma cannot be reliably distinguished on the basis of radiographic findings alone⁽³⁾. A calcified enchondroma can also mimic the appearance of a calcified marrow infarct. In most cases, chondrosarcoma has certain imaging features that are indicative of its aggressive behavior. Cortical destruction, soft-tissue mass and deep endosteal scalloping of the cortex are three features described more frequently in chondrosarcoma⁽³⁾. Hemangiomas may be superficial (Figures 1, 3 and 4) or deep (Figure 4 B). On the skin, they often protrude as soft bluish nodules^(14-16).

Fine needle biopsy of one of the soft tissue nodules or of one of the bone tumors can be taken for histologic confirmation⁽¹⁰⁾.

No medical care is needed in Maffucci syndrome patients who are asymptomatic^(3,10). Patients do need follow-up care to evaluate any changes in the skin by the dermatologist and bone lesions by the orthopedic surgeon and the radiologist^(1-4). Radiography, CT scanning and/or magnetic resonance imaging should be periodically performed to evaluate bone changes^(3,7-13). Maffucci syndrome can cause a variety of complications, such as pathological fractures, skeletal deformities, vascular overgrowth, limb-length discrepancies, and malignant transformations^(3,5,8,9).

The differential diagnosis includes: Olier disease (multiple enchondromas), Gorham’s syndrome (bone and soft tissue angiomatous lesions), Kaposi’s sarcoma, Klippel-Trenaunay-Weber syndrome (venous malformations, cutaneous capillary malformations, and limb overgrowth), polyostotic fibrous dysplasia with multiple cavernous hemangiomas, Proteus syndrome (overgrowth of skin, bones-limb distortions, limb length discrepancy, and spine deformity, muscles, fatty tissues, and blood and lymphatic vessels).

Conclusions

Maffucci syndrome is a non-hereditary congenital condition that affects the skin and skeleton. The presence of imaging findings as well as the clinical and pathological evidence of enchondromas and hemangiomas are critical in the diagnosis of this condition.

Autori pentru corespondenţă: Ioana G. Lupescu E-mail: ilupescu@gmail.com

CONFLICT OF INTEREST: none declared.

FINANCIAL SUPPORT: none declared.

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