A young adult with a known skeletal disorder presented to the orthopaedic clinic and baseline radiographs were performed.
The patient, known to have Maffucci's syndrome, was referred to the Orthopaedic Clinic having moved to the area. Initial diagnosis was as a young child. No recent changes had occurred. Clinical examination revealed limb deformities, predominantly in the hands. Blue, subcutaneous haemangiomas, and hard masses adherent to bone were visible and palpable. Plain radiographs of the hands were obtained as a baseline for comparison if a change were to happen.
Maffucci's syndrome is multiple enchondromas with subcutaneous haemangiomas. The presence of haemangiomas distinguish it from Ollier's disease. It has been suggested that Ollier's disease and Maffucci's syndrome may be part of the same spectrum of mesenchymal dysplastic disorders. The hands are the most common site affected, and there is a tendency for the haemangiomas to predominate on one side of the body. The disease is sporadic with no apparent hereditary component. It manifests in early childhood at an average age of 2.6 years. Enchondromas arise in the medulla of the phalanges and metacarpals, most commonly, and they have the capacity to undergo malignant change. Enchondromas are lytic and expansile with flecks of calcification, described as "popcorn like".
They appear as lobulated, high signal lesions with a low signal rim on T2 weighted magnetic resonance images. Small flecks of signal void caused by the calcification are seen. Haemangiomas are seen on plain radiographs when they calcify. They are seen on T1 weighted MR images as poorly marginated and infiltrative with low to intermediate signal. On T2 weighted images they are of fat density with serpentine flow voids in areas of high flow. Non skeletal tumours are also common, normally of mesoderm origin and often malignant.
It is important to distinguish Maffucci's syndrome from Ollier's disease because of the higher incidence of chondrosarcoma and non skeletal malignancies. A quarter of people with Ollier's disease will have a chondrosarcoma by the age of 40 years, but chondrosarcoma is inevitable with Maffucci's syndrome, normally in the fourth decade. Astrocytoma is the most common non skeletal malignancy, with ovarian and other abdominopelvic tumours also frequently seen. The brain, abdomen and pelvis should be screened by periodic clinical assessment and imaging. Any new pain or change in size of an enchondroma which had been unchanged since adolescence requires careful evaluation. Radiological signs of malignant change include rapid increase in size, deep endosteal scalloping, cortical destruction and periosteal reaction.
Maffucci's syndrome
Based on the patient's bilateral hand X-rays, the main features are as follows:
1. Multiple roughly round to oval, relatively well-defined lytic lesions are visible within the medullary cavities of various phalanges and metacarpals, with some lesions showing an expansile appearance.
2. Scattered “popcorn-like” or patchy calcifications can be seen within the lesions, which is a common sign of chondroid calcification.
3. Soft tissue findings may show vascular tumor-related calcifications or abnormal tissue density (given the history suggesting a possible vascular tumor).
4. The overall shape of the phalanges is irregular, with some phalanges significantly deformed or having altered length. These changes indicate a long-term cartilaginous condition.
Taking into account the patient’s existing history of “multiple enchondromas” and vascular tumor (or vascular malformation), the main differential diagnoses are:
1. Ollier's Disease
- Characteristics: Multiple enchondromas, often accompanied by deformities of long bones or phalanges.
- Radiological features: Similar to the current case, showing multiple expansile lytic lesions and chondroid calcification.
- Key distinguishing point: Not associated with soft tissue hemangiomas or vascular malformations.
2. Maffucci's Syndrome
- Characteristics: Multiple enchondromas combined with soft tissue hemangiomas (or vascular malformations).
- Radiological features: Similar to Ollier's disease (multiple enchondromas), with additional calcifications or abnormal signals related to soft tissue hemangiomas.
- Pathogenesis: No significant familial inheritance; considered a sporadic abnormality in mesenchymal tissue development.
- Risk of malignancy: Both enchondromas and vascular tumors carry a higher risk of malignant transformation under this syndrome.
3. Other Rare Conditions with Extensive Chondroid Lesions
- For instance, hereditary cartilage developmental disorders. However, given the known hemangioma and enchondroma, Maffucci's syndrome remains the most likely.
Based on the patient’s age (31 years), known history of skeletal abnormalities, radiological findings of multiple enchondromas, and the presence of vascular tumors, the most appropriate diagnosis is: Maffucci’s syndrome.
As Maffucci’s syndrome carries a higher risk of malignant transformation for both enchondromas and vascular lesions, it is recommended to monitor the patient regularly in conjunction with clinical assessment. Additional screening (e.g., bone scans, MRI, or CT) may be considered. If necessary, a biopsy can be performed to clarify the nature of the lesions.
1. Treatment Strategy Overview:
- Regular Monitoring: Given the increased risks of chondrosarcoma and other soft tissue or central nervous system tumors, regular follow-ups are recommended to closely observe changes in lesion size and symptoms.
- Surgical Intervention: For lesions that exhibit severe deformity, functional impairment, or suspected malignant transformation, surgical intervention (e.g., curettage, bone grafting, or resection) is necessary. If hemangiomas cause significant pain or local compression symptoms, sclerotherapy or surgical removal may be considered.
- Medications and Other Treatments: At present, there is no specific curative medication for this syndrome. If pain or inflammation is present, appropriately use pain relievers or anti-inflammatory medications as needed.
2. Rehabilitation and Exercise Prescription:
When planning rehabilitation, consider the risk of fragile bones and the need to maintain limb function. The following gradual, individualized exercise prescription may be helpful:
a) Type of Exercise:
- Prioritize non-weight-bearing or low-impact exercises such as swimming, stationary cycling, or basic yoga/Pilates. Avoid high-impact activities (e.g., running, jumping).
b) Frequency and Duration:
- Start with 2–3 sessions per week, each lasting 20–30 minutes. Increase gradually to 3–5 sessions per week, each 30–45 minutes, based on tolerance.
c) Intensity:
- Aim for moderate to low intensity, ensuring no significant pain or exacerbation of bone discomfort during exercise.
d) Progression Principles (FITT-VP):
- F (Frequency): Increase from 2–3 times/week to 3–5 times/week as tolerated;
- I (Intensity): Maintain at a relatively low heart rate, avoiding excessive fatigue;
- T (Time): Progressively extend the duration from about 20 minutes to over 40 minutes, depending on patient stamina;
- T (Type): Low-impact aerobic exercise or simple strength training;
- V (Volume): Gradually increase total exercise volume as tolerance improves;
- P (Progression): Closely monitor the patient’s subjective feelings, as well as joint and bone conditions. Progress slowly and steadily.
e) Safety Precautions:
- Avoid rapid increases in exercise volume in a short period to prevent fracture risk.
- If local pain, swelling, or persistent discomfort occurs after exercise, seek medical evaluation or adjust the exercise plan promptly.
This report is based on the provided images and past medical history for reference purposes and does not replace in-person consultation or professional medical advice. If the patient experiences new symptoms or requires a more definitive diagnosis and treatment plan, they should promptly visit a qualified healthcare facility.
Maffucci's syndrome
