This 32-year-old male patient, known in our clinic, consulted the orthopaedic surgeon because of a sore feeling in the upper arm for 3 months. There was no history of recent trauma. On physical examination there were no palpable abnormalities, no neurological dysfunction or limited range of motion in the shoulder.
Discrete structural changes are appreciated in the proximal metaphysis and diaphysis of the right humerus (Fig. 1, 2). Only slight endostal scalloping is seen. There is no ballooning or periostal reaction, the cortex is intact. Additional elbow radiographs (Fig. 3, 4) better depict a soft tissue mass around the elbow and multiple calcification with central lucencies. Erosions of the ulna are evident. On coronal MRI T1-weighted images (T1w) of the right upper arm, a large intramedullar lesion is seen expanding from the proximal metaphysis to distal diaphysis of the humerus (Fig. 5). The lesion shows endostal scalloping, has intermediate signal intensity on T1w, inhomogeneous increased signal intensity on T2w (Fig. 6) and shows peripheral and septonodular post-contrast enhancement. In addition, a lobulated intra-articular soft tissue mass continuous with superficial blood vessels is seen in the elbow on T2w (Fig. 7, 8). Previously performed (postoperative) hand radiographs are shown in Fig. 9.
Maffucci syndrome is a rare genetic disorder, which consists of multiple enchondromas with associated soft tissue masses, most commonly haemangiomas. The syndrome is considered sporadic and non-familial, usually presenting at birth or in early childhood. There is no apparent racial or sexual predilection [1]. Enchondromas are most commonly found in small tubular bones of hands and feet, humerus, femur and tibia and are meta- or less frequently diaphyseal in location. Multiple enchondromas may cause bone fractures with consequent deformations. Superficial vascular lesions are usually present at distal extremities and are seen as bluish soft compressible subcutaneous nodules, but are not limited to extremities and may be present throughout the body [2-5]. Clinical symptoms vary from cosmetic discomfort due to the soft tissue swelling to painful lesions at risk for haemorrhage [2]. Initial diagnosis is based on conventional radiographs on which enchondroma is seen as a geographic, central lesion with variable amount of chondroid matrix. In absence of pathological fracture, no complete cortical destruction or soft tissue masses are seen. Inhomogeneous low-density soft tissue mass that may contain phleboliths seen on radiographs suggests accompanying haemangiomas and gives clues to the proper diagnosis. MR imaging is used for further characterization of chondroid lesions especially in differentiation of enchondroma from low grade chondrosarcoma. On T1w, enchondroma has low to intermediate signal intensity, while on fluid-sensitive sequences it shows lobulated high signal typical of benign cartilage lesions. Peripheral and septal enhancement is seen after administration of contrast. In case of multiple enchondromas, bone scintigraphy or whole body MRI should be performed in order to detect other potential lesions. The importance of recognizing this entity lies in a fact that the risk of malignant transformation ranged up to 57% in patients with Maffucci syndrome [6]. In our patient, multiple haemangiomas were resected from both hands. The large lesion in the humerus is an ACT (Atypical Chondroid Tumour) with a high risk of chondrosarcoma. Malignant transformation may or may not be accompanied by pain. The intra-articular synovial haemangioma might be an explanation for complaints as well. Based on their review of the literature Herget et al. propose a yearly clinical follow-up in patients with enchondromatosis. Larger tumours located in the pelvis, femur, humerus or scapula require annual MRI of the affected areas which may be in form of a whole body MRI. For other locations, radiographic control should be discussed every two to three years [6].
Maffucci syndrome
Based on the X-ray and MRI images provided by the patient, the following observations are noted:
In summary, the radiological findings suggest multiple cartilaginous lesions combined with hemangioma-like changes in the soft tissues, consistent with multiple enchondromas and hemangiomas.
Taking into account the patient’s age, history of hand hemangioma surgery, and imaging findings (multiple enchondromas/hemangiomas), the most likely diagnosis is: Maffucci Syndrome. Among these, the large lesion in the humerus shows characteristics of an “Atypical Cartilaginous Tumor (ACT),” which necessitates close follow-up and pathological evaluation to rule out or monitor for potential progression to low-grade chondrosarcoma.
During this process, monitor pain levels, joint function, and bone status closely. If significant discomfort arises, seek medical attention promptly.
This report represents a reference analysis based on the current medical history and imaging data. It does not replace in-person medical consultation or professional advice. Patients should integrate clinical symptoms, laboratory findings, pathological examinations, and specialist evaluations to finalize the treatment plan.
Maffucci syndrome
