Faculty Bibliography

BACKGROUND: Klippel-Trenaunay syndrome is a rare congenital disease characterized by extensive cutaneous vascular malformations, venous varicosities, focal abnormalities of the deep venous system, and underlying soft tissue or bony hypertrophy. Given the rarity of the disease, there is little information available to counsel patients with Klippel-Trenaunay syndrome regarding obstetric outcome. CASES: We report our experience with 3 patients in whom Klippel-Trenaunay syndrome complicated 4 pregnancies. Successful delivery of a healthy infant at or beyond 36 weeks of gestation was achieved in all pregnancies. One of the 4 pregnancies was complicated by pulmonary embolism. CONCLUSION: Klippel-Trenaunay syndrome was once thought to be a contraindication to pregnancy. With careful management, successful pregnancies can be achieved

Hemangiomas are the most common benign tumor of infancy. Most hemangiomas remain asymptomatic and can be managed by close observation; however, immediate treatment is indicated for hemangiomas that may cause significant complications. Periocular hemangiomas warrant close evaluation and early, active treatment of those with the potential to threaten or permanently compromise vision. Herein we review the clinical features of periocular hemangiomas, differential diagnosis, possible ophthalmologic complications and sequelae, and therapeutic modalities

Vascular malformations can usually be diagnosed on clinical grounds. They have a well-defined appearance on magnetic resonance imaging, which can effectively determine their tissue and flow characteristics. However, the role of cross-sectional imaging in the management of vascular malformations is not well defined. Most reviews suggest that magnetic resonance imaging should be reserved for cases in which the extent of the lesion cannot be estimated on physical examination. However, to date no group has compared the accuracy of physical examination alone to that of magnetic resonance imaging in determining this extent. A review was performed of all the patients evaluated for vascular malformations at the New York University Trunk and Extremity Vascular Anomalies Conference between July of 1994 and August of 1999. Patients who underwent magnetic resonance evaluation at other institutions and whose images were not available for review were excluded. All study patients either underwent magnetic resonance imaging examination at New York University Medical Center or had outside films reviewed at the center. The physical examination findings were compared with the magnetic resonance findings and the surgeon and radiologist made a joint decision about whether there was a correlation between the magnetic resonance and physical examination findings. Fifty-eight patients met the study criteria, 44 (76 percent) of whom were found to have more extensive disease on magnetic resonance examination than appreciated on physical examination. Of the 51 patients with low-flow vascular malformations (venous vascular malformations, lymphatic malformations, and capillary malformations), 39 (76 percent) had more extensive disease on magnetic resonance examination than on physical examination. Of the seven patients with high-flow arteriovenous malformations, five had more extensive disease on magnetic resonance. In all of the 44 patients whose magnetic resonance imaging findings did not correlate with those of the physical examination, therapeutic decision making was affected. Contrary to the conventional wisdom of published reviews, physical examination findings significantly underestimated the extent of vascular malformations in the majority of cases. Magnetic resonance imaging should be performed in all patients with vascular malformations of the trunk and extremities before therapy is planned. In an age when physicians are asked to justify their decisions, especially where the use of expensive diagnostic modalities is concerned, the situations in which these tests are indispensable must be clearly defined or else patients will be denied access to them

Vascular anomalies arise from genetic, environmental, mechanical, and/or hormonal factors. Some are inherited in a Mendelian fashion whereas others result from abnormal chromosomal segregation during gametogenesis or appear sporadically during various stages of life. Understanding the molecular basis of vascular development and vascular anomalies provides potential tools for diagnosis and treatment of the diseases

Optimal care for a subgroup of infants with complicated vascular anomalies requires prenatal diagnosis. Fetal vascular lesions are either vascular tumors or vascular malformations, both of which are often detected on routine ultrasound. Imaging, such as ultrasound and fetal MRI, can be used to examine lesions and provide the data for a differential diagnosis, which may impact the course of care both in utero and postnatally. Prenatal diagnosis provides the opportunity for antenatal intervention, parental counseling, and planning of the mode and location of delivery to optimize postnatal care. Prenatal diagnosis of vascular lesions also serves to alert the physician to the potential for associated syndromes and complications. Any indication of a vascular anomaly should be referred for further examination by an experienced multidisciplinary team of physicians to ensure the window in which evaluation, planning, and treatment can take place is not missed

Although the majority of hemangiomas of infancy undergo an uncomplicated, predictable course of proliferation followed by involution, a subset of patients sustain a more fastidious course. These include hemangiomas that, at least during part of their life cycle, have a high flow (arterial) component. Hemangiomas with high flow are most frequently located in the liver. These lesions can lead to significant morbidity, with high output cardiac failure. We have identified nonhepatic hemangiomas that have an apparent propensity to develop a high flow element--the parotid, upper arm, scalp, and rarely the upper lip--and present our experience in this report. These lesions appear to behave as transiently 'arterialized' hemangiomas

Hemangiomas are the most common benign tumor of infancy. Although most hemangiomas remain asymptomatic, certain hemangiomas can cause significant morbidity and require treatment. Periocular hemangiomas require close observation and early therapy for those lesions with potential for visual impairment. Hemangiomas typically cause visual morbidity by induction of amblyopia, strabismus, significant refractive error or optic nerve compromise. Diagnosis is typically straightforward but occasionally other entities may cause diagnostic confusion and radiologic evaluation can be helpful. This is particularly important if the hemangioma is one component of the PHACES syndrome. Therapeutic options which may be useful include steroids (oral, intralesional or topical), interferon alpha (usually reserved for life- or sight-threatening lesions due to serious potential side effects), laser, embolization and surgery. Ophthalmic treatment using patching, atropine, glasses and stabismus surgery may be necessary

Hemangioma is the most common soft-tissue tumor of infancy. Despite the frequency of these vascular tumors, the origin of hemangioma-endothelial cells is unknown. Circulating endothelial progenitor cells (EPCs) have recently been identified as vascular stem cells with the capacity to contribute to postnatal vascular development. We have attempted to determine whether circulating EPCs are increased in hemangioma patients and thereby provide insight into the role of EPCs in hemangioma growth. METHODS AND RESULTS: Peripheral blood mononuclear cells (PBMCs) were isolated from hemangioma patients undergoing surgical resection (N = 5) and from age-matched controls (N = 5) undergoing strabismus correction surgery. PBMCs were stained with fluorescent-labeled antibodies for AC133, CD34, and VEGFR2/KDR. Fluorescent-labeled isotype antibodies served as negative controls. Histologic sections of surgical specimens were stained with the specific hemangioma markers Glut1, CD32, and merosin, to confirm the diagnosis of common hemangioma of infancy. EPCs harvested from healthy adult volunteers were stained with Glut1, CD32, and merosin, to assess whether cultured EPCs express known hemangioma markers. Hemangioma patients had a 15-fold increase in the number of circulating CD34 AC133 dual-staining cells relative to controls (0.78+/-0.14% vs.0.052+/-0.017%, respectively). Similarly, the number of PBMCs that stained positively for both CD34 and KDR was also increased in hemangioma patients (0.49+/-0.074% vs. 0.19+/-0.041% in controls). Cultured EPCs stained positively for the known hemangioma markers Glut1, CD32, merosin. CONCLUSIONS: This is the first study to suggest a role for EPCs in the pathogenesis of hemangioma. Our results imply that increased levels of circulating EPCs may contribute to the formation of this vascular tumor