During the physical examination, a full-body examination is important. Gait should be assessed in ambulatory patients in the hallway (walking and running if possible). The surgeon should correct leg-length discrepancy by placing blocks under the shorter leg before an Adams forward bend test of the spine is performed with a scoliometer or free app to examine spinal asymmetry. The surgeon should determine whether a soft tissue mass is creating imbalance or whether it is truly a bony deformity. This can be difficult to determine on examination and usually requires imaging. Standing pelvic balance and shoulder symmetry should be assessed. The coronal and sagittal alignment of the spine and lower extremities should be noted. The surgeon should measure side-to-side thigh, calf, and foot circumference difference and leg-length discrepancy. Foot size difference and macrodactyly, syndactyly, and sandal gap should be noted. All joints should be assessed for range-of-motion and angular deformities, which are common. The surgeon should perform a full neurovascular examination.

Standing PA and lateral spinal films with any leg-length discrepancy corrected with blocks are a good start at assessing spinal deformity. Patients with significant scoliosis, back pain, and/or neurologic symptoms need a full spine MRI. For those with high-flow malformations (for example, arteriovenous malformations), angiography may be needed. Leg-length discrepancy can be assessed with a standing AP hips-to-ankles radiograph; newer low-dose systems such as EOS make these films accurate and provide less radiation exposure. Because foot height and bulk often contribute greatly to a significant leg-length discrepancy (anything greater than 2 cm/approaching 1 inch) in vascular anomalies, standing films are preferred to lying down scanogram measurement radiographs with a ruler, which do not include the foot.

For patients with soft tissue overgrowth, joint contractures, or pain, a contrast-enhanced MRI of the affected part is critical for surgical planning. This can reveal the presence of anomalous vessels, intraarticular involvement, and the extent of deep disease in the musculature and around nerves.

SURGICAL INDICATIONS

VERTEBRAL COLUMN/SPINE

Scoliosis in the general pediatric population is generally observed until the curve reaches 25 degrees and braced until 40 to 50 degrees. This is the point at which curvature bracing is ineffective and curve progression continues after skeletal maturity, which is why this is the threshold for spinal straightening and instrumented fusion. However, vascular malformations do not follow these rules. Most curves result from intrathecal involvement (commonly seen in CLOVES syndrome) or vertebral column structural instability and collapse (for example, lymphatic malformations and Gorham-Stout disease). Thus curve progression is common. Spinal fusion stabilization is considered for progressive curvature of more than 40 degrees. Neurosurgical intervention for spinal cord detethering, decompression, and resection of intrathecal masses is much more common in the vascular malformation population than in the idiopathic scoliosis population. Spinal stabilization is also considered for instability and fractures.

A leg-length difference of greater than 2 cm causes gait disturbance, pelvic imbalance, and secondary scoliosis and can be a later source of leg and back pain. Although shoe lifts are effective, this amount of difference requires a build-on platform to each walking shoe. This is difficult and tedious to maintain for a lifetime, particularly if the platform is several inches, which leads to ankle sprains and difficulty with uneven surfaces. During childhood, annual clinical examinations and shoe lifts are recommended. As patients approach puberty, their final predicted leg length and foot length can be estimated accurately by widely available tools such as the Green-Anderson or the Paley Multiplier method. Apps are now available that can also assist. Because major leg lengthening on the unaffected limb or femoral shortening on the overgrown side is much riskier and morbid in this group, guided growth or epiphysiodesis is the most widely recommended technique that has good success if used in time on the overgrown part.

ANGULAR DEFORMITY

Angular deformity such as genu valgum/knock knees or genu varum/bow legs can occur. Whenever possible, guided growth/hemiepiphysiodesis with implantable devices to tether one side of the physis should be used to avoid the morbidity of osteotomy.

INTRAARTICULAR INVOLVEMENT

When vascular malformations occur around joints, they can invade the capsule and cause recurrent hemarthrosis and eventual end-stage arthritis and contracture. If diagnosed early, aggressive sclerotherapy and synovectomy can stop this cycle. Whenever possible, arthroscopic evaluation and synovectomy with cauterization of intraarticular malformation should be used. Very few patients with vascular malformations are joint replacement candidates because of the nature of the soft tissue envelope. Therefore a severely arthritic contracted knee often warrants an amputation.

JOINT CONTRACTURE

In young life early contractures can be managed with physical therapy. Often the contracture is driven by deep muscle and joint disease, which should be treated aggressively when possible with interventional radiology injection and cryotherapies and arthroscopic ablation. Botox and serial casting are not indicated, because the muscles are not spastic. In select cases tendon lengthening is helpful. If there is focal muscle involvement with pain and contracture, muscle resection can be beneficial.

SOFT TISSUE OVERGROWTH

By 2 years of age, children with overgrowth malformation syndromes (for example, CLOVES syndrome or Klippel-Trenaunay syndrome) should see a multidisciplinary team trained in vascular anomalies. Assessment for anomalous veins should be done with closure in interventional radiology. The family should be educated about compressive wrapping of lymphedema in limbs and later compression garments where appropriate. For severe cases, oral sirolimus and other drug therapies should be maximized according to the recommendations of the team’s hematology and oncology members. Children with CLOVES syndrome should be put on a renal ultrasound Wilms tumor screening protocol. For patients with massive overgrowth that limits ambulation, fitting of clothing, and use of limbs, debulking is recommended. A staged approach is used, with the most affected part worked on first and in limbs from distal to proximal. For massively overgrown, nonfunctional limbs or for those creating a parasitic limb or cardiac failure, amputation is recommended.

VERTEBRAL COLUMN/SPINE FUSION

The surgeon should assess the type of malformation and perform three-dimensional imaging and planning. The use of titanium implants will allow a postoperative MRI. Many patients have significant anomalous venous systems, and thus all patients should be evaluated by hematology and interventional radiology before surgery. Many patients need preoperative embolization with inferior vena cava (IVC) filter placement. Bleeding should be expected and mitigated with preoperative embolization, normalization of D-dimer and fibrinogen (often with preoperative anticoagulation with enoxaparin sodium [Lovenox]), and intraoperative use of special cautery devices. Often a combined team approach with neurosurgery, orthopedics, and plastic surgery is helpful.

EPIPHYSIODESIS/HEMIEPIPHYSIODESIS

Although epiphysiodesis/hemiepiphysiodesis is a minor operation, these patients still need pre-operative assessment and closure of anomalous veins (for example, the lateral marginal vein of Servelle in patients with Klippel-Trenaunay syndrome) and maybe perioperative anticoagulation with a preoperative hematology consultation. Epiphysiodesis involves either percutaneous or mini-open drilling/curettage of the physis or transphyseal screw placement. Hemiepiphysiodesis involves partial tethering or closure of one side of the physis, usually with an implanted device to correct angular deformity.

These techniques should always be performed under a tourniquet in patients with vascular anomalies. A radiolucent table and intraoperative fluoroscopy are essential. The small wounds (often 5 mm for epiphysiodesis and 2 to 3 cm for hemiepiphysiodesis) should be closed with clear PDS and compressed for 24 hours with a bulky dressing/compressive wrap. This technique is highly successful with minimal morbidity; however, it takes 1 to 3 years to see the effect as the contra-lateral part catches up in length.

ARTHROSCOPY

Supine arthroscopy with a tourniquet is suggested. A pressurized inflation saline system and appropriate cautery and ablation tools are essential. If there is extensive involvement, an overnight drain with a compressive wrap can be used. The small scope portals can be closed either with nylon or buried sutures. Multiple small portals can be used to access the malformation; for example, the surgeon can use several suprapatellar portals to access the fat pad malformation and gutter malformation.

FOOT DEFORMITY/OVERGROWTH

The ability to wear off-the-shelf shoes is often a stated goal of patient and families. To accomplish this, various techniques may be used. Length may be reduced by metatarsal/proximal phalanx epiphysiodesis done in mini-open direct curettage fashion. A stapes curette from the otolaryngology surgery kits is helpful. Macrodactylous toes must be assessed for function; debulking rarely achieves lasting success, and ray resection is most definitive. Dorsal overgrowth can be debulked but may recur. The best treatment for feet with significant toe overgrowth may be amputation at the metatarsal phalangeal joints, whereas the best treatment for extreme overgrowth with a dysfunctional sole of the foot may be a Syme amputation.

Three-dimensional imaging is essential to assess the extent of deep involvement in a limb. If there is a focal lesion or involvement of a single compartment, resection can be highly successful and beneficial. Although amputation is always a last resort, it can return a patient to high functionality. Patients and families must be counseled about the known natural history of the disease and the current range of treatment options available. Redundant muscles in the lower extremity can be safely resected without the need for reconstruction with free flaps. For example, the gastrocnemius or soleus muscle can function alone, and resection of the gluteus maximus is well tolerated if the gluteus medius is intact. Patients with extensive involvement, particularly multicompartmental or with nerve involvement on imaging, are not good candidates for resection. The surgeon should use a sterile tourniquet whenever possible, have special cauterization tools such as the Aquamantys system available, and plan for a wide exposure. Usually the surgeon should resect the entire affected muscle if it is redundant under the tourniquet and then drop the tourniquet and achieve hemostasis. Intraoperative placement of nerve block catheters is helpful. We suggest a careful layered closure over drains with the subdermal and skin layers performed with clear, small 3-0 and then 4-0 PDS. The surgeon should leave the drains in with a compressive wrap until output is under 15 cc per day and continue compressive dressings for 4 to 6 weeks. Amputation should be considered for dysfunctional, painful, or severely overgrown parasitic limbs without other options.

SOFT TISSUE DEBULKING

Excision of excess soft tissue can be performed with suction-assisted lipectomy (liposuction) or excision of skin and subcutaneous tissue. The surgical approach is determined by the type of vascular anomaly and the location of overgrown tissue. An MRI is performed to confirm the diagnosis and illustrate what structures are causing the overgrowth (for example, bone, muscle, or subcutaneous tissue). Only skin and subcutaneous tissue can be removed; we do not advocate resection of intrafascial overgrowth because of the morbidity associated with muscle extirpation.

Generally, liposuction is preferred for lesions that are not extremely vascular and primarily affect the subcutaneous tissue (for example, capillary malformation, adipose hypertrophy in CLOVES syndrome, microcystic lymphatic malformation, and lymphedema). Liposuction can only remove tissue in the subcutaneous plane and is not indicated for lesions that are significantly vascular because of difficulty controlling bleeding (for example, venous malformations or arteriovenous malformations). Liposuction is a minimally invasive method to remove subcutaneous tissue, because it requires only small (1 cm) incisions to insert the cannulas. After the subcutaneous tissue is removed, the skin will contract to further reduce the size of the extremity.

Skin and subcutaneous resection is indicated for patients with significant cutaneous involvement, vascular lesions that require meticulous hemostasis, or for patients with excess skin that requires removal (for example, Klippel-Trenaunay syndrome, venous malformations, and arteriovenous malformations). Localized areas can be removed in one stage, and skin flaps do not exceed one half of the leg circumference to prevent skin necrosis. Muscle fascia typically is not removed. Tourniquets are effective to reduce blood loss. Diffuse extremity overgrowth requires staged extirpations. An incision is made on one side of the extremity, skin flaps are raised no more than one half the circumference, tissue between the muscles and skin is removed, and redundant skin is excised over drains. At least 3 months later, the procedure is repeated along the other side of the extremity. Compared with liposuction, “open” resection of soft tissue is associated with greater morbidity and postoperative recovery.

SPINAL DEFORMITY