Thirty year old male patient presented with swellings in forearms, hands and left lower chest with slow enlargement of the lesions.He is of normal stature with normal intelligence.
Thirty year old male patient presented with swellings in forearms, hands and left lower chest. Chest PA and frontal radiographs of both forearms including hands were taken. Chest Radiograph showed well defined, expansile lytic lesions in the anterior ends of multiple ribs bilaterally with matrix calcification. Phleboliths are noted at both rib cages suggesting Haemangiomas. Radiograph of Forearms showed multiple soft tissue swellings with Phleboliths suggestive of Haemangiomas. Lytic lesions are seen in proximal and middle phalanges of middle finger and proximal phalanx of index finger, thumb and First and Third Metacarpals on left side.
Maffucci’s syndrome is a congenital, nonhereditary mesodermal dysplasia characterized by Enchondromatosis, multiple soft tissue Cavernous Haemangiomas and less commonly Lymphangiomas. The multiple enchondromas and hemangiomas affect the skin and skeletal systems(1).25% of cases present during first year of life, 45% prior to 6 yrs and 78% of cases before puberty (2). Males are affected more commonly than females. Associated conditions include Juvenile granulosa cell tumour of Ovary, Multiple blue subcutaneous nodules particularly on digits and extremities (Cavernous Haemangiomas).The affected persons will have normal intelligence. The lesions may be unilateral or bilateral. In case of bilateral lesions there will be marked asymmetry. There is a distinct predilection for tubular bones of hands and feet. Lack of bone remodelling may lead to limb length discrepancies and tubulation deformities (3). Radiographically the intraosseous lesions are central or eccentric, are radiolucent and contain variable amount of calcification. Phleboliths may be seen in the soft tissue Haemangiomas. There is increased risk of malignant transformation. Malignant degeneration of Enchondroma to Chondrosarcoma/Fibrosarcoma occurs in 15-20% of cases (2). Cavernous Haemangiomas may turn into Haemangiosarcoma/Haemangioendothelioma/Lymphangiosarcoma in 3-5% (2). There is increased prevalence of Ovarian Carcinoma, Pancreatic carcinoma, CNS Glioma and Gastrointestinal Adenocarcinoma.Prevalence of malignancy is 23-100%.(2). Differential diagnosis includes Olliers disease. The presence of Haemangiomas in the soft tissues with Phleboliths differentiates Maffucis from Olliers disease (4). The malignant potential is likely to be similar or slightly higher than that of Olliers disease (4).No medical care is needed in patients who are asymptomatic. Patients do need careful follow-up care to evaluate any changes in the skin and bone lesions.Patients with Maffucci syndrome usually lead reasonably normal lives with a normal life expectancy if no malignant transformation occurs(5).
Maffucci’s syndrome
Based on the provided X-ray imaging data, multiple irregularly low-density regions can be observed in the patient’s forearm, both hands, and left chest wall, mainly involving tubular bones (such as phalanges, metacarpals, forearm bones, etc.) and some soft tissues:
Overall, the findings suggest multiple benign tumor-like lesions simultaneously present in bone and soft tissue, with features of both chondroma and hemangioma. The disease appears to have a chronic, progressive course.
Considering the patient’s age, clinical presentation, and imaging characteristics, the following are the diagnostic considerations:
Taking into account the 30-year-old male patient with multiple cartilaginous bone lesions in the forearm and both hands, concurrent soft tissue cavernous hemangiomas, the presence of punctate calcifications (potential phleboliths), and the chronic progressive nature of the disease, the most likely diagnosis is Maffucci Syndrome.
There is a need to closely monitor the risk of malignant transformation of these lesions and to conduct regular follow-up imaging checks (X-ray, MRI, etc.). If necessary, perform a biopsy or other auxiliary examinations to rule out possible malignancies such as sarcoma.
In managing Maffucci Syndrome, the general therapeutic strategies include:
Rehabilitation and Exercise Prescription Suggestions:
Because the patient’s bones may remain relatively fragile and there are soft tissue hemangiomas, it is important to avoid trauma and excessive loading during exercise. A gradual progression of low-impact exercises is recommended, following the FITT-VP principles (Frequency, Intensity, Time, Type, Progression, and Personalization):
During rehabilitation, closely monitor any pain or discomfort. Any significant discomfort, joint swelling, or changes in local masses should prompt immediate imaging reevaluation and notification to the attending physician.
Disclaimer: This report is provided for informational purposes only and is not a substitute for an in-person consultation or a professional physician’s diagnosis and treatment. If the patient experiences any special circumstances or changes in symptoms, please seek immediate medical attention and further evaluation.
Maffucci’s syndrome