Working Diagnosis:
Diffuse intramuscular vascular malformation with associated flexion/pronation contractures of the left elbow, concern for Maffucci syndrome.

Treatment:
Recommended physical therapy to focus on stretching and improving range of motion. Orthopedics oncology recommended against surgical intervention at this time.

Outcome:
He may participate in activity as tolerated. He will continue to work with physical therapy.

Follow up with Orthopedic oncology in 12 weeks. He will need regular monitoring.

Author's Comments:
Elbow stiffness can be a result of traumatic and atraumatic etiologies. Most common causes of elbow stiffness are extrinsic soft tissue contractures and intra-articular pathology. It is also important to think about vascular malformations as a cause of restricted range of motion of the elbow. The overall prevalence of vascular malformations is up to 1% in the general population. Venous malformations are the most common types of vascular malformations. These typically present at childhood or early adulthood with functional or cosmetic symptoms related to their size and location. These lesions can cause pain and skeletal deformity and result in reduced joint mobility. These venous malformations can cross tissue planes and invade fat, muscle, tendon, and even bone. Vascular malformations can be associated with a number of syndromes. In this case, there was a concern for Maffucci syndrome which is a rare, non-hereditary syndrome characterized by hemangiomas and multiple enchondromas, most commonly seen in the hands. Doppler ultrasound and MRI are the image modalities typically used to evaluate the extent and complexity of the malformations. The diagnosis of Maffucci syndrome is made by a detailed history, thorough physical exam, and radiologic assessment. In most cases of vascular malformations conservative treatment including OT/PT is recommended. Vascular lesions may need sclerotherapy, and operative removal is sometimes needed. Patients with Maffucci syndrome require close regular monitoring due to the significant risk of malignant progression and chondrosarcoma. Operative management is indicated in the event of pathologic fractures, growth defects, and malignant transformation.

Editor's Comments:
Vascular malformations are classified as capillary, venous, lymphatic, or arteriovenous. AV malformations are high flow lesion while venous malformations are low flow. Because of high flow nature of AV malformations, it makes them difficult to treat. They are present at birth and grow as the individual grows often leading to presentation in 20s and 30s. Symptoms can range from none to motion restriction and functional issues. Pain is often not the presenting symptom. With large lesions, left-to-right shunting can occur that can increase right arterial pressures. Ultrasound is useful as an initial diagnostic tool. It can help differentiate high flow from low flow lesions. It also can be useful for rule out thrombus in low flow lesions. MRA or CTA can be useful to better characterize the extent of the lesion especially for surgical planning.
Treatment can depend on severity of symptoms. Treatment can be supportive: compression, elevation, and NSAIDs for pain and swelling. Embolization therapy can be use for smaller lesion. Surgery can be indicated for larger lesions and those causing significant disfunction. Complete surgical resection especially of larger lesions is often unattainable, and without complete resection, recurrence is common.
This case highlights the approach to management of limited range of motion. Limited passive range of motion of the elbow can be caused by loose bodies, bulky synovitis, or other intraarticular pathology and should be evaluated with MRI.

References:
Greene AK, Orbach DB. Management of arteriovenous malformations. Clin Plast Surg. 2011 Jan;38(1):95-106. doi: 10.1016/j.cps.2010.08.005. PMID: 21095475.

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