➢ Vascular malformations require a multidisciplinary approach in diagnosis, management, and treatment.
➢ Capillary malformations are the most common vascular malformation and typically are associated with limb hypertrophy in the affected extremity.
➢ Venous malformations can lead to hemarthrosis, muscle contractures, or osseous deformities and fractures and require extensive management and therapy.
➢ Arteriovenous malformations cause painful skeletal overgrowth and limb hypertrophy and may lead to ischemia of the tips of digits.
Vascular anomalies are among the most common congenital abnormalities in infants and children. The management of vascular anomalies requires interdisciplinary care and collaboration between orthopaedic surgeons, general surgeons, plastic surgeons, interventional radiologists, dermatologists, oncologists, and child life specialists, leading to the establishment of vascular anomaly teams at tertiary centers.
Vascular anomalies are a heterogeneous group of conditions, with similar clinical appearance but substantially different manifestations. The development of an appropriate classification system has helped to reduce confusion regarding terminology, thus improving diagnosis and management. There are two groups of vascular anomalies: (1) vascular tumors and (2) vascular malformations. Differentiating between these two types, and their subtypes, is essential because of their distinct natural history and treatment1.
The goal of this review is to highlight the role of the orthopaedic surgeon in the approach and treatment of extremity vascular malformations and to discuss diagnostic strategies and management at a multidisciplinary level. We also review the most common associated syndromes seen in the orthopaedic practice, including Klippel-Trenaunay syndrome, Proteus syndrome, Maffucci syndrome, Gorham-Stout disease or syndrome, Parkes Weber syndrome, and Bannayan-Riley-Ruvalcaba syndrome.
In 1863, Virchow was the first to classify vascular anomalies into groups on the basis of their histopathologic appearance2. However, this nomenclature was confusing and often led to misdiagnosis with consequent inappropriate treatment. Mulliken and Glowacki proposed a classification system based on biological behavior and structure3. Two major categories evolved: vascular tumors, which arise from endothelial hyperplasia, grow during infancy, and then slowly regress during childhood, and vascular malformations, which arise from dysmorphogenesis, exhibit normal endothelial turnover, and grow proportionally with the child, worsening over the individual’s lifetime. Although Finn et al.4 demonstrated that the accuracy of this classification system was more than 90%, the differentiation between vascular tumors and vascular malformations can still be challenging.
The International Society for the Study of Vascular Anomalies (ISSVA) adopted an updated classification system in 1996 to provide a common language for diagnosis and prognosis and to guide therapy (Tables I and II). It aimed to further distinguish vascular malformations based on hemodynamic flow characteristics and type of anomalous vascular channels5-7. The current ISSVA classification system has been essential in improving our understanding of vascular anomalies and facilitating communication among specialists managing these lesions.
Vascular malformations are defined as abnormal arterial, venous, capillary, or lymphatic channels resulting from dysfunctional morphogenesis during gestation5. The pathogenesis of these lesions is still not completely understood, although many speculate that defects exist in both vasculogenesis and/or angiogenesis5,8. Unlike hemangiomas, these lesions are negative for immunohistochemical marker glucose transporter 1 (GLUT1)9 and do not demonstrate endothelial proliferation5,8. Vascular malformations occur at a similar rate between males and females3,4,10. They are usually present at birth, but may go unnoticed until later in life11. These lesions typically grow commensurately with the child and do not regress. Capillary, venous, or lymphatic malformations are considered low-flow single-channel lesions, and any malformation with an arterial component is considered a high-flow combined-channel lesion3. Mixed lesions can also occur.
The extremities are one of the most common locations for vascular malformations8. The history and physical examination are usually sufficient to make the diagnosis; however, magnetic resonance imaging (MRI) plays a vital role in evaluating deeper lesions, categorizing the type of lesions, and determining the extent for treatment planning (Table III) (Fig. 1)12. Dynamic contrast-enhanced MRI, a noninvasive MRI modality that creates imaging similar to digital angiography, has recently been shown to be more accurate than conventional MRI in distinguishing between high-flow and low-flow lesions13,14.
Capillary malformations, previously known as port-wine stains, are the most frequent vascular malformation1,8,15. Diagnosed clinically, capillary malformations are dilated skin capillaries that are identified on examination as erythematous macules. As the patient ages, these lesions continue to enlarge and darken1,8,12. Capillary malformations may be localized or diffuse12. Diffuse capillary malformations may be associated with congenital hypertrophy of the involved extremity, but usually there is no substantial limb-length discrepancy16.
For children with capillary malformations that are associated with a syndrome, MRI may be useful for the evaluation of associated underlying pathologies (e.g., prominent veins)15. Treatment modalities for capillary malformations of the extremities include observation, cosmetic concealment, and/or pulsed dye laser therapy1,8.
Venous malformations are the most prevalent vascular malformation of the extremities15. These were once referred to as cavernous hemangiomas, but that term is now antiquated17. Venous malformations have a variable appearance, defined by thin walls, a flat endothelium, and an irregular smooth muscle layer. The spectrum includes a single ectatic, dysplastic vein as well as a spongy mass of multiple tortuous veins of varying size12,18,19. Over time, venous malformations dilate due to repeated engorgement, which stretches out these thin vessels with an incomplete smooth muscle layer18,19. Venous malformations can be subclassified as (1) focal, multifocal, or diffuse and extensive; (2) superficial or deep; and (3) sequestrated or nonsequestrated from the normal venous system18,19. Deep venous malformations are an important source of morbidity because they may invade multiple tissues, such as skin, fat, tendon, muscle, nerve, synovium, and/or bone, resulting in considerable functional impairment8,20. Incompetent venous valves can predispose the patient to the formation of clots, which can be painful. Despite the fact that phleboliths, or calcified intralesional thrombi, commonly occur, pulmonary thromboembolism is rare since the thrombosed channels no longer connect to the normal venous system8,21.
Venous malformations may occur in any part of the body. When they occur in the extremities, they are readily apparent on visual examination, appearing as a soft, compressible, bluish mass8,17. Exertion or placement of the affected extremity in a dependent position can elicit engorgement12,22. Venous malformations of the extremities cause pain more frequently than those located elsewhere23. Other frequent symptoms include edema and morning stiffness8,23. Other signs include ulceration, hemorrhage, and impaired mobility12.
Intramuscular venous malformations may cause morbidity if they penetrate the bone and/or the joint19. Functional impairments include muscle contracture12, osseous deformities caused by direct pressure, and pathologic fracture due to decreased bone density in the case of intraosseous lesions (Fig. 2)8. Similar to the arthropathy seen in individuals with hemophilia, intra-articular and/or periarticular venous malformations may cause recurrent hemarthrosis, which can lead to cartilage damage24. This ultimately results in secondary osteoarthritis with impaired joint function8, most commonly involving the knee. Limb-length discrepancy may arise from undergrowth (due to progressive amyotrophy8,16) or overgrowth16.
Diffuse and extensive intramuscular venous malformations are also associated with a chronic, localized intravascular coagulopathy characterized by a normal platelet count or mild thrombocytopenia, very low fibrinogen levels, and high levels of fibrin degradation products such as D-dimers24. Localized intravascular coagulopathy is responsible for episodes of pain, thrombosis or bleeding, phlebolith formation, and hemarthrosis24. Management of localized intravascular coagulopathy may include aspirin or lower-molecular-weight heparin. Conversion of localized intravascular coagulopathy to disseminated intravascular coagulopathy can be triggered by prolonged immobilization, pregnancy or menstruation, bone fracture, sclerotherapy, trauma, and surgery25. It is also important to distinguish localized intravascular coagulopathy from Kasabach-Merritt phenomenon8,24. In Kasabach-Merritt phenomenon, platelets become trapped within a vascular tumor, such as kaposiform hemangioendothelioma or tufted angioma, which results in a profound thrombocytopenia24,26.
Radiographs may demonstrate phleboliths, which are pathognomonic of venous malformations22,25. Osseous changes may include hypertrophy or hypotrophy as well as arthropathy25. Additionally, radiographic osseous changes may masquerade as a malignancy, such as a periosteal reaction resembling an osteosarcoma or chondrosarcoma15,25. Ultrasound can differentiate low-flow from high-flow lesions when there is clinical ambiguity26. On ultrasound, venous malformations are typically hypoechoic, but heterogeneous and compressible22. Any echogenicity within these lesions is usually an intralesional thrombus or calcified phlebolith8. Computed tomography (CT) is not useful because the definition between various tissues is poor as compared with that on MRI, and this limits precise evaluation of the extent of the venous malformation8.
MRI is currently the best noninvasive imaging study to assess venous malformations because it can differentiate low-flow from high-flow vascular malformations, and it can also evaluate the extent of tissue involvement8,12. Venous malformations are distinguished from high-flow arterial lesions by the absence of signal voids. However, it should be noted that venous malformations may have signal voids when phleboliths or thrombi are cut in cross section. Radiography can confirm if a calcification is the cause of this signal void12. In general, venous malformations have a high signal intensity on T2-weighted or short tau inversion recovery (STIR) sequences and a low signal intensity on T1-weighted images12. Venous malformations also enhance diffusely on delayed-phase, gadolinium-enhanced magnetic resonance images (Fig. 3)12. Similar to intramuscular venous malformations, intra-articular venous malformations also have a high signal intensity on T2-weighted and STIR images; however, it is important to note that hemosiderin can interfere on T2-weighted sequences. Therefore, patients with an intra-articular venous malformation, hemarthrosis, or osteoarthropathy should undergo assessment with gradient-echo images instead8.
Direct venography is currently the best invasive imaging modality to define venous malformations but is not required to confirm the diagnosis. Arteriography is not helpful because the dysplastic venous channels either do not fill or fill poorly with contrast8. Direct venography, which consists of percutaneous cannulation of the venous malformation and contrast injection, is usually performed at the time of sclerotherapy. If a connection between the venous malformation and the deep venous system exists, the risk of deep venous thrombosis increases. It is crucial to evaluate the deep venous system prior to embolization or sclerotherapy of a more superficial venous malformation because it may be essential for venous drainage of the extremity in patients with hypoplastic, absent, or stenotic deep venous system anatomy12.
The treatment of venous malformations includes the use of custom compression garments, intralesional sclerotherapy, surgical resection, or a combination of those treatments1. Elastic compression garments may reduce pain and swelling and are beneficial for patients who have diffuse and extensive intramuscular venous malformations1. Sclerotherapy is typically indicated for symptomatic lesions and is most successful in the treatment of sequestrated venous malformations1,8. The sclerosing agents that are commonly used include ethanol and sodium tetradecyl sulfate, and clinical improvement is usually seen after a few sclerotherapy sessions1,8. Magnetic resonance-guided sclerotherapy permits safe guidance and monitoring of percutaneous sclerotherapy and allows quantitative verification of therapeutic success during follow-up27. Patients with extensive skeletal muscle involvement are at risk for subsequent contracture and are referred for post-procedure intensive physical therapy and extremity splinting to stretch the affected muscle. If a contracture develops, surgical release and tendon-lengthening can be performed after the venous malformation has been sclerosed or embolized12. Indications for surgical intervention include well-localized venous malformations, intramuscular venous malformations, debulking of intra-articular diseased tissue, and painful lesions refractory to conservative treatment.
Lymphatic malformations account for approximately 25% of vascular malformations and, historically, have been called lymphangiomas and/or cystic hygromas1,8,17. These outdated terms are erroneous and should no longer be used1. Similar to venous malformations, lymphatic malformations can be subclassified as (1) localized or diffuse; (2) superficial or deep; and (3) macrocystic, microcystic, or combined macrocystic and microcystic1,8. Macrocystic (i.e., maximum cyst diameter of ≥1 cm) lymphatic malformations are typically located just beneath normal skin, whereas microcystic (i.e., <1 cm) lymphatic malformations are found deeper within the subcutaneous tissue and are associated with an infiltrative fatty fibrosis8. As with other vascular malformations, these are congenital lesions, but some may not become evident until two years of age1,28.
Approximately 20% of lymphatic malformations involve the extremities alone, and 40% involve both the trunk and extremities29. Extremity macrocystic lymphatic malformations are almost always located in the posterior cervical triangle of the neck28, while extremity microcystic lymphatic malformations typically occur in the upper extremities, specifically in the proximal aspect of the upper arms or the axillae8. Extremity lymphatic malformations may be asymptomatic or may cause a wide range of signs and symptoms, including muscular atrophy, overgrowth, osseous deformity, loss of extremity function, and pathologic fractures8.
As is the case with the vast majority of vascular malformations, the diagnosis of lymphatic malformations can usually be made with the use of history and physical examination alone4. The overlying skin may be normal or have a bluish hue. Unlike venous malformations, lymphatic malformations are not manually compressible, and they have a rubbery consistency17. Rapid expansion of a lymphatic malformation is often due to spontaneous intralesional bleeding, which is a risk factor for infection. Cellulitis may also abruptly enlarge lymphatic malformations1,12. Limb hypertrophy is often present at an early age12.
Ultrasound findings differentiate macrocystic from microcystic lymphatic malformations. Large anechoic or hypoechoic, septated, fluid-filled cysts are typical of macrocystic lymphatic malformations, whereas microcystic lymphatic malformations are hyperechoic8. MRI can confirm the diagnosis and assess the extent of the lymphatic malformation and differentiate it from a venous malformation8. Time-of-flight gradient echo sequences may be useful for distinguishing the slow-flow of a venous malformation from the stagnant flow of a lymphatic malformation12. Further differentiation is also possible with intravenous contrast because usually only septal enhancement occurs in macrocystic lymphatic malformations, whereas venous malformations demonstrate diffuse enhancement on delayed-phase gadolinium-enhanced magnetic resonance images. Growth may lead to spontaneous intralesional hemorrhage and/or infection. This is usually identified on MRI as fluid-fluid levels8.
Management of lymphatic malformations is nonsurgical, with external compression as the mainstay. In cases of spontaneous or posttraumatic intralesional bleeding, analgesia, rest, and time are usually sufficient. If there is a large collection of intralesional blood, prophylactic antibiotics should be considered. Cellulitis in a lymphatic malformation can be quite serious, with rapid onset of localized edema, erythema, pain, and eventual sepsis. Antibiotics should be administered promptly. If the infection cannot be controlled with oral antibiotics, prolonged intravenous therapy is required. Another common problem seen in patients with lymphatic malformations is superficial infection following minor trauma or cuts, which can progress to a severe infection or even sepsis. Sclerotherapy has become the preferred primary therapeutic option8. In general, larger macrocystic masses respond better to treatment than microcystic masses do11. Contour resection or debulking does not alter the progression of the disease but can sometimes decrease symptoms. Recurrence rates after surgical resection remain high, and multiple resections are often required. Furthermore, diffuse infiltrating lesions make complete resection almost impossible8.
Arteriovenous Malformation and Arteriovenous Fistula
Arteriovenous malformations and arteriovenous fistulas are defined as high-flow vascular malformations with an arterial channel component and arteriovenous shunting28. Arterial feeders and enlarged draining veins directly connect through multiple dysplastic vessels to create the nidus12. These lesions represent approximately 10% of venous malformations of extremities, with a slightly increased incidence in upper limbs30.
Arteriovenous malformations are commonly misdiagnosed in infancy and childhood as an involuting hemangioma or capillary malformation because the arteriovenous malformation is not yet high-flow, warm, or pulsatile1. Arteriovenous malformations are clinically evident during the second or third decade of life, and puberty, pregnancy, or trauma can trigger expansion1,5,17,30,31. When fully developed, arteriovenous malformations deepen in color and are associated with increased erythema, local warmth, a palpable thrill, and bruit. These arteriovenous malformations may cause progressive pain, functional impairment, skeletal overgrowth, and massive hypertrophy of a limb15. Later consequences include ischemic changes, indolent ulceration, intractable pain, and sudden, life-threatening hemorrhage or recurrent, intermittent bleeding1. Arteriovenous malformations at the distal aspect of an extremity may lead to ischemia of the tips of digits as a consequence of arterial steal and venous hypertension.
Ultrasound with color Doppler imaging demonstrates low-resistance, high-velocity arterial flow above the baseline, with high diastolic flux and pulsatile venous flow below the baseline. This noninvasive imaging modality is a reliable way to follow the course of an arteriovenous malformation or to monitor response to therapy but is rarely needed for diagnosis5. CT angiography provides three-dimensional reconstruction of the arteriovenous malformation5. MRI is a superior imaging modality, and the hallmark of high-flow vascular malformations on MRI is the presence of signal voids12,32. These vascular flow voids appear as black tubular structures that correspond to high-flow vessels in all sequences (spin-echo, T1-weighted, and T2-weighted)5. With use of intravenous contrast and magnetic resonance angiography, it is possible to view the feeding arteries and draining veins in an arteriovenous malformation. Angiography is not solely diagnostic, but can be therapeutic when combined with catheter embolization11. The presence of a nidus is a characteristic finding with arteriovenous malformation and serves to distinguish that disorder from an arteriovenous fistula, which is important because their treatment may differ8,12.
The management of arteriovenous malformations is challenging. Nonoperative treatment includes the use of adapted elastic stockings to protect the skin from trauma and reduce distal vascular steal16. Sometimes resection may be performed for a well-localized quiescent arteriovenous malformation, especially when complete resection is possible without poor cosmesis. Resectable arteriovenous malformations should be surgically removed twenty-four to seventy-two hours after arterial embolization for temporary nidus occlusion, as collateral blood flow can develop quickly11. Both the nidus of an arteriovenous malformation and the involved skin must be excised widely because embolization minimizes intraoperative bleeding but does not reduce the limits of planned resection. Indications for surgery are listed in Table IV. For unresectable arteriovenous malformations, palliative super-selective arterial or retrograde venous embolization is an option for control of pain, hemorrhage, or congestive heart failure. If the nidus is not obliterated during embolization, the arteriovenous malformation will recur. Sclerotherapy with injection of a sclerosant into the nidus can also be considered, but the risk of soft tissue and neurologic damage is high17. Amputation is an option for an ischemic or nonfunctional extremity. Limb-length discrepancy is sometimes managed with epiphysiodesis. Surgically accessible lesions treated with combined embolization and complete surgical resection are associated with the best outcome.
Complex-Combined Vascular Malformations
Complex-combined vascular malformations involve various combinations of single channel anomalies16,33. These lesions may be part of a syndrome that manifests as either overgrowth or undergrowth of the affected extremity due to alterations in soft tissue and bone growth16,17,33.
Klippel-Trenaunay syndrome is the most common of the associated syndromes. It is defined as a capillary lymphatic venous malformation that is associated with soft-tissue and skeletal hypertrophy17,33. Limb overgrowth is both axial and circumferential and typically continues until skeletal maturity1,16. Limb-length discrepancy may reach >8 cm, with compensatory pelvic tilt and scoliosis16,33. The Mayo Clinic examined their patient population with Klippel-Trenaunay syndrome and found that this syndrome presents most often unilaterally in the lower extremity as capillary malformation of the skin (246 of 252, 98%), deep venous malformation (182 of 252, 72%), or limb hypertrophy (local gigantism) (170 of 252, 67%), although only two of these three are required for diagnosis34. Pain is often due to thrombosis, infection, or bone and/or joint involvement, but can also be neuropathic. Klippel-Trenaunay syndrome may be associated with a localized intravascular coagulopathy, and it is usually managed with antiplatelet therapy (e.g., low-dose aspirin).
As previously described for venous malformations and lymphatic malformations, MRI is the preferred imaging study to confirm the diagnosis and analyze the extent of the lesions. Scanograms are obtained initially, then annually, to follow limb-length discrepancies of >1.5 cm17,33. Nonsurgical management includes compression therapy to reduce lymphedema (elastic stockings, lymphatic manual drainage, and physical therapy), as well as careful hygiene to prevent infection and subsequent sepsis16. Sclerotherapy, pulsed dye laser therapy, and partial excision are used in select patients16,17,33. Selective amputation (e.g., ray, midfoot, or Syme) may be required in cases of grotesque foot enlargement. Debulking of an enlarged digit, calf, thigh, or buttock with staged contour resection can be helpful (Fig. 4)1,17. Orthopaedic intervention is often required for the management of limb-length discrepancy and limb hypertrophy. Shoe lifts are used for limb-length discrepancies of 1.5 to 2 cm. Percutaneous or open epiphysiodesis is indicated for limb-length discrepancies of >2 to 2.5 cm1,16. Differences in limb-length of >2 to 2.5 cm at skeletal maturity may require lengthening or shortening procedures.
Proteus syndrome is an uncommon, progressive, and disproportional overgrowth disorder of the vascular, skeletal, and soft tissues17,33. Patients with Proteus syndrome typically have slow-flow malformations that are similar to the limb lesions seen in Klippel-Trenaunay syndrome, although not as extensive. A number of osseous changes can be associated with this syndrome, including hyperostosis, exostosis, and osseous angulation. Associated findings in the axial skeleton include asymmetrical extremity overgrowth, limb-length discrepancy, pes valgum, genu recurvatum, macrodactyly, clinodactyly, syndactyly, polydactyly, scoliosis, and kyphoscoliosis16,33,35.
Radiographic findings include cortical thinning, coarse trabeculation, and demineralization33. Treatment is challenging, and close follow-up by an orthopaedic surgeon is mandatory for limb and spinal involvement16. Phalanx and/or metatarsal epiphysiodesis has been attempted without great improvement. Macrodactyly, also seen in Klippel-Trenaunay syndrome, can be treated with resection or shortening of enlarged rays, debulking of soft tissue, and ray amputation (Fig. 5). These procedures may enable the child to wear normal shoes and improve his or her gait.
Maffucci syndrome is a congenital, nonhereditary disease typically presenting in early childhood, characterized by multiple enchondromas and vascular anomalies (usually a venous malformation and hemangioendothelioma)16,17. The disease is asymmetrically distributed in the limbs, with unilaterality in 50% of those affected16. Similar to the related Ollier disease, Maffucci syndrome presents in tubular bones such as the metacarpals, metatarsals, or phalanges. Patients may present with pain, limb-length discrepancy, angular deformities, and, in some cases, dwarfism, with typical blue, soft nodules marking the extremity vascular lesions.
Radiographs demonstrate well-demarcated, expansile radiolucent skeletal lesions and the presence of bone remodeling, cortical thinning, and multiple calcified phleboliths (the presence of phleboliths distinguishes this syndrome from Ollier disease)16. Malignant degeneration, usually to chondrosarcoma, has been recognized in nearly 100% of patients16,17,36,37.
Gorham-Stout Disease or Syndrome
Gorham-Stout disease or syndrome, also known as vanishing bone disease or massive osteolysis, is a rare idiopathic disorder that is diagnosed on the basis of clinical, radiographic, and histopathologic findings33. Definitive diagnosis is confirmed with bone biopsy. In Gorham-Stout disease, normal bone is replaced by expanding non-neoplastic hypervascular tissue38. All types of low-flow vascular malformations have been reported to be associated with Gorham-Stout disease; however, it is thought that lymphatic malformations predominate. The syndrome is gradual in its onset and often presents after a pathologic fracture33. Patients may complain of dull pain and weakness.
Radiographs may demonstrate intraosseous multiple patchy lucencies resembling osteoporosis as well as extraosseous soft-tissue involvement and cortical erosion33. Gorham-Stout disease can occur in any bone but is typically localized to the shoulder, pelvic girdle, or spine. If the lymphatic malformation involves the mediastinum, chylothorax or chylous pericardial effusion may occur, thus increasing the morbidity and mortality associated with this disease. Focal lesions may be treated with a combination of embolization and surgery. Bone-grafting is usually unsuccessful because of absorption of the graft; for those patients, amputation with a prosthesis can be considered. Unfortunately, extensive bone destruction is often nonresponsive to radiation therapy or surgery. Recently, interferon-alpha, because of its anti-angiogenic properties, has been shown to stabilize the disease39.
Parkes Weber Syndrome
Parkes Weber syndrome consists of either a capillary arteriovenous malformation or capillary lymphatic arteriovenous malformation and extremity overgrowth with increased limb length16,17,30,33. These patients usually present to the orthopaedist with a pseudocapillary malformation as well as soft-tissue hypertrophy, bone overgrowth, localized or diffuse lymphedema, and arteriovenous fistulas. The lower extremities are more frequently affected17,33. The pathogenesis of extremity overgrowth is unknown33. The diagnosis is a clinical one and is confirmed by the presence of a bruit or thrill.
Diagnostic imaging is not required, but MRI demonstrates both muscular and osseous overgrowth, while catheter angiography often shows discrete arteriovenous fistulas at the joints17. Management is typically nonsurgical, in order to avoid worsening the arteriovenous fistulas. Compression stockings are protective against skin edema and trauma, which are well-known triggers for the progression of arteriovenous fistulas33. Arterial embolization is indicated for intractable pain, ulceration, ischemia, or high-output congestive heart failure and anasarca17,33.
Mixed Low-Flow and High-Flow
Bannayan-Riley-Ruvalcaba syndrome is an extremely rare autosomal dominant disorder that is associated with an increased risk of malignancy17,33,35. Germline mutations in the phosphatase and tensin homolog (PTEN) gene cause this syndrome as well as Cowden syndrome35. Bannayan-Riley-Ruvalcaba syndrome presents clinically with vascular malformations, macrocephaly, multiple lipomas, hamartomatous intestinal polyps, genital pigmented maculae, and developmental delay17,33,35. High-flow vascular malformations are more common than low-flow lesions40, and the associated arteriovenous malformations can cause appreciable morbidity and are difficult to manage33. Bannayan-Riley-Ruvalcaba syndrome may also involve the extremities; the associated (albeit infrequent) findings include macrodactyly and hypermobile joints33,40. The treatment of Bannayan-Riley-Ruvalcaba syndrome is largely supportive and includes patient and family genetic testing as well as long-term screening for neoplasms, with the goal being early diagnosis33.
Orthopaedic surgeons should be familiar with extremity vascular malformations and their associated syndromes, as these are not uncommon. The classification system of the ISSVA has been crucial in improving our understanding of vascular anomalies, enabling proper diagnosis and management, and facilitating communication between specialists caring for patients with these lesions. The history and physical examination are usually sufficient to make the diagnosis of a vascular anomaly; however, MRI plays a vital role in evaluating deeper lesions, categorizing the type of lesions, and determining the extent of treatment. Multidisciplinary management of these complex conditions is paramount.
Source of Funding: There was no external source of funding.
Investigation performed at Children’s Hospital, Los Angeles, California
Disclosure: None of the authors received payments or services, either directly or indirectly (i.e., via his or her institution), from a third party in support of any aspect of this work. One or more of the authors, or his or her institution, has had a financial relationship, in the thirty-six months prior to submission of this work, with an entity in the biomedical arena that could be perceived to influence or have the potential to influence what is written in this work. No author has had any other relationships, or has engaged in any other activities, that could be perceived to influence or have the potential to influence what is written in this work. The complete Disclosures of Potential Conflicts of Interest submitted by authors are always provided with the online version of the article.
- Copyright © 2014 by The Journal of Bone and Joint Surgery, Incorporated