Here you will find an overview of medical resources in the field, including the ISSVA Classification Table, Resources for Treatment of Vascular Anomalies and Associated Syndromes, Current Research Studies, Clinical Trials, Offline Research, and Abstracts for Future Research. While this list is not exhaustive, it is intended to serve as a resource for our community. This list was last updated in July 2019 by Sarah Kathryn Kenis, RN, VBF Medical Representative.
The full text of this article may be accessed for a fee at:
http://www.plasreconsurg.com/pt/re/prs/abstract.00006534-200506000-00014.htm
Journal of the American Society of Plastic Surgeons
Lymphatic malformation in the orbital cavity and surrounding region often causes disfigurement and visual problems. To better clarify the evolution and treatment of this condition, the authors studied a retrospective cohort of 42 consecutive patients seen between 1971 and 2003 and analyzed anatomic features, complications, and management. The ratio of female to male patients was 1:1. Most periorbital lymphatic malformations were noted at birth (59 percent), presenting as either unilateral swelling (60 percent) or a periorbital mass (24 percent). Sixty-two percent of lesions were on the left side. The ipsilateral cheek, temple, and forehead also were involved in 57 percent of patients. Twenty-two percent of lesions were intraconal, 30 percent were extraconal, and 48 percent were in both spaces. Forty-five percent of children had an associated cerebral developmental venous anomaly. Periorbital lymphatic malformation caused major morbidity; 52 percent of patients had intralesional bleeding and 26 percent of patients had a history of infection. Other common complications included intermittent swelling (76 percent), blepharoptosis (52 percent), proptosis (45 percent), pain (21 percent), amblyopia (33 percent), chemosis (19 percent), astigmatism (17 percent), and strabismus (7 percent). Ultimately, 40 percent of children had diminished vision and 7 percent became blind in the affected eye. Management of periorbital lymphatic malformation involved an interdisciplinary team that included an interventional radiologist, a craniofacial surgeon, and an ophthalmologist. The two therapeutic strategies were sclerotherapy (40 percent) and resection (57 percent); most patients required several interventions. A coronal approach was used for subtotal excision of fronto-temporal-orbital lymphatic malformation in 13 patients, whereas a tarsal incision was used for lesions isolated to the eyelid (n = 14). Ocular proptosis was temporarily managed by tarsorrhaphy (n = 9), but expansion of the bony orbit was needed to correct persistent proptosis (n = 8). Orbital exenteration was necessary in two patients.
The full text of this article may be accessed for a fee at:
http://www.plasreconsurg.com/pt/re/prs/abstract.00006534-200501000-00003.htm
Journal of the American Society of Plastic Surgeons
Low flow vascular malformations, especially venous and macrocystic lymphatic malformations, are effectively treated by percutaneous intralesional injection of sclerosant drugs, such as ethanol and detergent sclerosant drugs. Good to excellent results are possible in 75%-90% of patients who undergo serial sclerotherapy. Most adverse effects are manageable, but severe complications can result from the intravascular administration of ethanol. It is generally recommended that the treatment of vascular malformations be performed in a multidisciplinary setting by practitioners with appropriate training and support.
The full text of this article may be accessed for a fee at:
http://www.jvir.org/article/S1051-0443(07)60452-7/fulltext
Journal of Vascular and Interventional Radiology Online
We define the histopathologic findings and review the clinical and radiologic characteristics of rapidly involuting congenital hemangioma (RICH). The features of RICH are compared to the equally uncommon noninvoluting congenital hemangioma (NICH) and common infantile hemangioma. RICH and NICH had many similarities, such as appearance, location, size, and sex distribution. The obvious differences in behavior served to differentiate RICH, NICH, and common infantile hemangioma. Magnetic resonance imaging (MRI) of the three tumors is quite similar, but some RICH also had areas of inhomogeneity and larger flow voids on MRI and arterial aneurysms on angiography. The histologic appearance of RICH differed from NICH and common infantile hemangioma, but some overlap was noted among the three lesions. RICH was composed of small-to-large lobules of capillaries with moderately plump endothelial cells and pericytes; the lobules were surrounded by abundant fibrous tissue. One-half of the specimens had a central involuting zone(s) characterized by lobular loss, fibrous tissue, and draining channels that were often large and abnormal. Ancillary features commonly found were hemosiderin, thrombosis, cyst formation, focal calcification, and extramedullary hematopoiesis. With one exception, endothelial cells in RICH (as in NICH) did not express glucose transporter-1 protein, as does common infantile hemangioma. One RICH exhibited 50% postnatal involution during the 1st year, stopped regressing, was resected at 18 months, and was histologically indistinguishable from NICH. In addition, several RICH, resected in early infancy, also had some histologic features suggestive of NICH. Furthermore, NICH removed early (2-4 years), showed some histologic findings of RICH or were indistinguishable from RICH. We conclude that RICH, NICH, and common infantile hemangioma have overlapping clinical and pathologic features. These observations support the hypothesis that these vascular tumors may be variations of a single entity ab initio. It is unknown whether the progenitor cell for these uncommon congenital vascular tumors is the same as for common infantile hemangioma.
Capillary malformation (CM), or “port-wine stain,” is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combined vascular anomalies that exhibit hypertrophy, such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and Parkes Weber syndrome. Occasional familial segregation of CM suggests that there is genetic susceptibility, underscored by the identification of a large locus, CMC1, on chromosome 5q. We used genetic fine mapping with polymorphic markers to reduce the size of the CMC1 locus. A positional candidate gene, RASA1, encoding p120-RasGAP, was screened for mutations in 17 families. Heterozygous inactivating RASA1 mutations were detected in six families manifesting atypical CMs that were multiple, small, round to oval, and pinkish red in color. In addition to CM, either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome was documented in all the families with a mutation. We named this newly identified association caused by RASA1 mutations “CM-AVM,” for capillary malformation-arteriovenous malformation. The phenotypic variability can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells.
The full text of this article may be accessed for a fee at:
http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=14639529
Vascular anomalies involving both intra- and extra-cranial structures are more common than previously thought. It is important to evaluate the brain and its coverings carefully when imaging cervicofacial vascular malformations. Scientific knowledge regarding developmental mechanisms responsible for blood vessel formation is increasing rapidly and, hopefully, will contribute to better understanding of these clinical and imaging “patterns.”
Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma.
The full text of this article may be accessed for a fee at:
https://link.springer.com/article/10.1007/s00247-002-0726-3
Intramuscular venous malformations are often mistaken for tumors because of a similar presentation and improper nomenclature. This is a review of 176 patients with venous malformations localized to skeletal muscle compiled from the Vascular Anomalies Center at Children’s Hospital from 1980 through 1999. The female-to-male ratio was 2:1. Two-thirds of skeletal muscle venous malformations were noted at birth; the remainder manifested in childhood and adolescence. Venous malformations occurred in every muscle group, most often in the head and neck and extremities. Pain and swelling were the usual presenting complaints. Skeletal problems, such as fracture, deformation, or growth abnormalities, were rare. Hormonal exacerbation and intralesional bleeding were infrequent. Magnetic resonance imaging showed the lesions to be isointense to surrounding muscle on T1-weighted sequences and hyperintense on T2-weighted images. Characteristic tubular or serpentine components were oriented along the muscular long axis. Thrombi were hyperintense on T1-weighted and hypointense on T2-weighted sequences; phleboliths were signal voids on all sequences. Gross examination of resected specimens revealed multicolored tissue with dilated vascular channels, frequently containing phleboliths. Light microscopy showed aggregates of primarily medium-sized, thin-walled vascular channels with flat endothelium and variable smooth muscle, most closely resembling dysplastic veins. Three lesions had a different histologic appearance consisting predominantly of small vessels with capillary structure and proliferative activity admixed with large feeding and draining vessels, like a lesion called intramuscular capillary hemangioma in the literature. The endothelium in these three lesions was negative for glucose transporter-1 by immunostaining. Eight percent of the patients, who had minor or no symptoms, were not treated. Twenty-four percent of the patients were managed conservatively (with aspirin and compressive garments); for 17 of these patients (10 percent of 176), noninvasive therapy was not successful, and they proceeded to sclerotherapy, excision, or both. A total of 31 percent of the patients had sclerotherapy, 20 percent had excision, and 27 percent had combined sclerotherapy and excision. Sclerotherapy was used for diffuse lesions, except for those with multiple intralesional thromboses, neurologic impairment, or compressive signs and symptoms. Resection was preferred for venous malformations well localized to a single muscle or muscle group, particularly if the muscles are expendable. Therapeutic outcomes were recorded in the charts or obtained by telephone interview in 122 of the patients (69 percent). Of these, compression garment and aspirin, resection, sclerotherapy, or combined excision and sclerotherapy improved symptoms in 121 patients (92 percent); no change was noted in 10 patients (8 percent). Only one patient was worse (self-reported) after intervention.
The full text of this article may be accessed for a fee at:
http://www.plasreconsurg.com/pt/re/prs/abstract.00006534-200212000-00001.htm
Journal of the American Society of Plastic Surgeons
More than half of the patients with vascular anomalies referred to the Vascular Anomalies Clinic at Children’s Hospital, Boston, have been misdiagnosed. A major consequence of misdiagnosis is inappropriate treatment, including deferral of necessary treatment and inappropriate use of pharmacotherapy, radiation, surgery, and embolotherapy. Hemangiomas and vascular malformations are distinct categories with completely different biologic and clinical behavior, therapeutic requirements, and imaging features. This article reviews the biologic classification of vascular anomalies and corresponding MR imaging features and presents a simplified guide to diagnosis.
BACKGROUND/PURPOSE: Vascular anomalies are diagnosed prenatally with increasing frequency. The authors reviewed a group of children treated at their center who had an abnormal prenatal diagnosis to determine (1) fetal age at which the vascular anomaly was detected, (2) general diagnostic accuracy, and (3) impact on ante- and postnatal care. Their findings are compared with reported cases and series. The authors clarify appropriate terminology and underscore the need for interdisciplinary participation of specialists in the field of vascular anomalies.
METHODS: Patients referred during prenatal life and children with a history of abnormal antenatal findings seen at our vascular anomalies center during a 1-year period (September 1999 through August 2000) were included in this study. The fetal age at diagnosis, pre- and postnatal diagnoses, antenatal course, and neonatal outcome were obtained from the parents, through chart reviews, and through telephone interviews with the treating obstetricians.
RESULTS: Twenty-nine patients with vascular anomalies were identified: 17 had a correct prenatal diagnosis, and 12 had an incorrect diagnosis, an overall diagnostic accuracy of 59%. Capillary-lymphatic-venous malformations (CLVM) most often were correctly diagnosed (67%), followed by lymphatic malformation (LM, 62%) and hemangioma (59%). In the infants who received correct diagnoses in utero, there were no fetal deaths and there was no neonatal morbidity. Maternal steroids were administered for a fetus with an intrahepatic hemangioma and deteriorating cardiac function, with subsequent stabilization and successful delivery of a healthy neonate. Among infants with incorrect diagnoses, there was 1 postnatal death, 1 case of erroneous gender assignment, 1 case of unnecessary fetal surgical intervention, 1 unnecessary neonatal laparotomy, and 1 delay in diagnosis of a malignancy. Cesarean section was done for 65% of correctly diagnosed cases, (including 2 ex utero intrapartum [Exit] procedures) and for 33% of incorrectly diagnosed cases. Most diagnoses were made during the mid- to late second trimester and third trimester; only 4 cases (14%) were detected before 20 weeks.
CONCLUSIONS: In this series, accurate diagnosis optimized antenatal care by providing an opportunity for planning deliveries, for pharmacologic fetal intervention in 1 case, and for appropriate parental counselling. Inaccurate diagnosis was associated with significantly increased morbidity and mortality. Finally, the intrauterine diagnosis of LM should be distinguished from posterior nuchal translucency, an obstetric term applied to fetal lymphatic abnormalities detected in the first and second trimesters that do not manifest as postnatal LM. Copyright 2002 by W.B. Saunders Company.
The typical vascular anomalies (tumors and vascular malformations) that involve the liver in infants and children are summarized. Many of these lesions are complex and require multiple imaging modalities, often including angiography, for precise diagnosis.
OBJECTIVES: To define the morphologic abnormalities in patients presenting with diffuse pure venous malformations (VM) of the upper extremity.
SUBJECTS AND METHODS: A retrospective review of MRI and venography was performed on five patients, aged 6 months to 20 years, with extensive VM of the upper limbs. Abnormalities of major conducting veins were categorized as varicosities, stenoses, and asymmetrical pouches; anomalous venous spaces were classified into confluent lakes, interconnecting channels and sponge like plexiform networks. MRI and venographic data were reviewed separately and then simultaneously in order to establish correlation between types, location, and extent of lesions.
RESULTS: In all patients, the percentage of replacement of normal tissues by VM was shown by MRI to be significantly higher in the distal limb than in the proximal limb. Involvement of multiple tissue layers was seen in all cases, including, with a decreasing rate, muscles, tendons, interosseous membrane of the forearm, and bone. Venography showed superficial varicosities, frequently associated with stenoses and asymmetric pouches in all patients. Interconnecting channels and venous lakes were noted in half of the segments, typically in muscle and other deep locations, and subcutaneous sponge like lesions were seen in two patients. MRI provided a more accurate evaluation of tissue extent. Venograms better demonstrated morphological details and provided more information about the venous drainage. Direct comparison of MR images with venograms helped to identify and characterize venous lesions on cross-sectional MR data.
CONCLUSION: Diffuse VM of the upper extremity are most extensive distally, and all tissues layers can be involved, each with a characteristic morphologic appearance. The morphology of different components of the VM is related to the nature of the surrounding tissue.
Congenital anomalies of the thoracic duct are rare, poorly characterized, and difficult to manage. The spectrum of pathophysiologic perturbations, presenting symptoms, radiographic findings, and interventions performed in 4 patients are shown. Accurate anatomic delineation of the malformation was only possible by direct injection contrast lymphangiography. Therapies tailored to address the anatomic aberrations included intralesional sclerotherapy, surgical excision and ligation, lymphovenous anastomosis, and omental interposition to interrupt dysfunctional collateral lymphatics to the lung. Accurate anatomic diagnosis of central lymphatic channel anomalies by contrast lymphangiography facilitates an individualized multidisciplinary approach to repair. Copyright 2001 by W.B. Saunders Company.
The authors studied a rare, congenital, cutaneous vascular anomaly that grows proportionately with the child and does not regress. A total of 53 patients were compiled from three vascular anomaly centers. These patients’ lesions were analyzed for presentation, physical findings, radiologic and histopathologic characteristics, natural history, and outcome after resection. The lesions occurred slightly more often in male patients, always appeared alone, and were located (in order of frequency) in the head/neck region, extremities, and trunk. They were round-to-ovoid in shape, were plaque-like or bossed, occurred in variable shades of pink to purple, and had an average diameter of 5 cm. The overlying skin was frequently punctuated by coarse telangiectasia, often with central or peripheral pallor. The lesions were warm on palpation; fast-flow was further documented by Doppler ultrasonography. Magnetic resonance imaging and angiographic findings were like those of common hemangioma of infancy. All lesions were easily excised without recurrence. Histologic examination revealed lobular collections of small, thin-walled vessels with a large, often stellate, central vessel. Interlobular areas contained predominantly dilated, often dysplastic veins; arteries were also increased in number. Small arteries were observed “shunting” directly into lobular vessels or into abnormal extralobular veins. “Hobnailed” endothelial cells lined the small intralobular vessels. Mast cells were increased. Tests for glucose transporter-1, a recently reported reliable marker for common hemangioma of infancy, were negative in all 26 specimens examined. In conclusion, the authors think these clinicopathologic and radiologic features define a rare vascular lesion for which the term “noninvoluting congenital hemangioma” is proposed. These lesions of intrauterine onset may be a variant of common hemangioma of infancy or another hemangiomatous entity with persistent fast-flow.
Dr. Martin Mihm, Jr. (VBF’s Research Director and Scientific Advisory Committee Chair) and Dr. Igancio Sanchez-Carpintero (recipient of VBF’s First Physician Education Grant) along with Dr. Paula North (of Arkansas Children’s Hospital) and Dr. Maria Martinez (Clinica las Americas, San Jaun de Puerto Rico) authored the history-making journal.
Article published in “Challenges in Medical and Surgical Therapeutics” by the American Medical Association (www.archdermatol.com), July 2002, reports the successful use of a topical agent called “imiquimod” to treat typical infantile hemangiomas. Imiquimod – an imidazoquinoline amine – is an immune-response modifier that acts by affecting the innate and acquired immune response to challenges. In the medical report, the imiquimod is used as a topical cream to treat hemangiomas.
Topical 5% imiquimod cream was initially used 3 times per week on two infants diagnosed with hemangiomas. The families of the children treated with this cream were happy with the option and the result. Current therapies include steroids, laser therapy (oral) and steroid injections and surgery. The topical cream is a welcome option to the more aggressive therapies and offers a great deal of hope to families with children diagnosed with hemangiomas.
This medical journal reports for the first time the apparent positive results from topical application of the immune-response modifier “imiquimod” in the treatment of proliferating infantile hemangiomas. Dr. Mihm is currently coordinating a more extensive study with pathologic correlation and mechanism oriented investigation. If successful, the imiquimod cream could change the way children with proliferating hemangiomas are treated world-wide.
