The Vascular Birthmarks Foundation Dr. Linda Rozell-Shannon, PhD President and Founder

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.


International Society for the Study of Vascular Anomalies (ISSVA) 2018 Interactive Classification Table


Resources for Treatment of Vascular Anomalies & Associated Syndromes

General / Hemangiomas

Congenital Hemangiomas

Facial Hemangiomas

Airway Hemangiomas

Congenital Nonprogressive Hemangiomas (CNH)

Arteriovenous Malformations (AVM)

Lymphatic Malformations

Venous Malformations

Multifocal Lymphangioendotheliomatosis (MLT)

Port Wine Stains

Sturge-Weber Syndrome

Klippel-Trenaunay Syndrome

Effects of Anesthesia

Dental / Orthodontic Issues


Current Research Studies


See if You or Your Child Qualifies for a Research Study or Clinical Trial


Offline Research

  • Wassef, M., Blei, F., Adams, D., Alomari, A., Baselga, E., Bernstein, A., Burrow, P., Frieden, I., Garzon, M., Lopez-Gutierrez, C., Lord, D., Mitchel, S., Powell, J., Prendiville, J., Vikkula, M. (2015). Vascular anomalies classification: Recommendations from the international society for the study of vascular anomalies. Pediatrics, 136(1). doi: 10.1542/peds.2014-3673
    • A group of ISSVA leaders began the classification in 2013, aiming to update the only other existing classification from 1997.
    • The updated official ISSVA classification of vascular anomalies including arteriovenous malformations (AVM), congenital hemangioma (CH), cerebral cavernous malformation (CCM), capillary malformation (CM), infantile hemangioma (IH), lymphatic malformation (LM), venous malformation (VM). The goal of the ISSVA classification is to clarify the misleading definitions set for from the World Health Organization in order to promote early and accurate treatment of vascular anomalies.
  • McInerny, T., Cohen, B., Rozell-Shannon, L. (2017). Commentary: Vascular birthmarks in infants: Importance of treating the 10%. American Academy of Pediatrics. Retrieved from http://www.aappublications.org/news/2017/05/02/Birthmarks050217
    • Vascular birthmark experts comply data and research proving the need for early and accurate treatment.
    • 10% of the average U.S. live births per year require expert intervention for a vascular birthmark. Early diagnosis and treatment of vascular anomalies leads to decreased psychosocial family trauma and decreased sequelae for the affected patient.
  • Baselga, E., Roe, E., Coulie, J., Munoz, F., Boon, L., McCuaig, C., Hernandez-Martin, A., Gich, I., Puig, L. (2016). Risk factors for degree and type of sequelae after involution or untreated hemangiomas of infancy. JAMA Dermatology, 152(11): 1239-1243. doi: 10.1001/jamadermatol.2016.2905
    • 185 infantile hemangiomas met inclusion criteria, those that received systemic therapy were excluded (p. 1241). Images of these hemangiomas were studied prior to intervention from 1 – 4 years post intervention to assess sequelae.
    • 9% of the hemangiomas studied left significant sequelae. The most common sequelae from infantile hemangiomas include telangiectasias and fibrofatty tissue.
  • Haggstrom, A., Drolet, B., Baselga, E., Chamlin, S., Garzon, M., Horii, K., Lucky, A., Mancini, A., Metry, D., Newell, B., Nopper, A., Frieden, I. (2006). Prospective study of infantile hemangiomas: Clinical characteristics predicting complications and treatment. Pediatrics, 118(3): 882-887. doi: 10.1542/peds.2006
    • 1,028 U.S. patients were enrolled by the Hemangioma investigator Group. Inclusion criteria for this study include patients less than twelve years of age at the time of enrollment with one or more hemangioma in the developing stage (p. 883). Hemangiomas were classified based on morphology and size. Data were processed by the National Outcomes Center and the University of San Francisco Biostatistics Department.
    • The greatest predictor of hemangioma prognosis is the morphologic classification. Segmental hemangiomas are 11 times more likely to develop complications than localized hemangiomas. Hemangiomas located in the perineal area has the highest complication rate, and the facial region is the most common site for hemangiomas (p. 886). The outcomes of this study are recommended for us in medical practice to determine which hemangiomas should be referred for treatment.
  • Haggstrom, A., Garzon, M., Baselga, E., Chamlin, S., Frieden, I., Holland, K., Maguiness, S., Mancini, A., McCuaig, C., Metry, D., Morel, K., Powell, J., Perkins, S., Siegel, D., Drolet, B. (2010). Risk for PHACES syndrome in infants with large facial hemangiomas. Pediatrics, 126(2).
    • Investigators from the Hemangioma Study Group recruited 108 eligible infants with head and neck hemangiomas that measured greater than 22cm. Hemangiomas were classified based on their morphology and size. Each participant was evaluated based on physical examination, MRI and angiography of the head and neck, echocardiography and ophthalmic examination.
    • Results of this study indicate clinical manifestations that identify infants at high risk for developing PHACE. PHACE was diagnosed in 33% of infants with a facial hemangioma measuring greater than 22 cm, with 9.3% being affected by aortic coarctation. PHACE syndrome is more common in females, large hemangiomas, and segmented hemangiomas. 90% of infants with PHACE have multiple other extracutaneous manifestations of a vascular anomaly
  • Mattila, K., Kervinen, K., Kalajoki-Helmio, T., Lappalainen, K., Vuola, P., Lohi, J., Rintala, R., Pitkaranta, A., Salminen, P. (2015). An interdisciplinary specialist team leads to improve diagnostics and treatment for paediatric patients with vascular anomalies. Acta Paediatrica 104: 1109-1116. doi: 10.1111/apa.13076
    • 480 patients from Helsinki Children’s Hospital, and pediatric patients from outside the Hospital District of Helsinki and Usimaa that met the ISSVA vascular anomaly classification and diagnosis criteria were included in this study. Vascular tumors, hemangiomas, vascular malformations, lymphatic malformations, venous malformations, and arteriovenous malformations were addressed in this study.
    • Results of this study prove that hemangiomas are diagnosed correctly 92.8% of the time while 57.7% of capillary malformations, 63% of lymphatic malformations, 18.6% of venous malformation, and 30% of arteriovenous malformations are diagnosed correctly. None of the patients with combined slow flow malformations were diagnosed correctly. Vascular anomalies are most often incorrectly classified as hemangiomas leading to inaccurate treatment and poor outcomes. Having an interdisciplinary team of vascular anomaly experts leads to improved knowledge and consistent practice leading to early and accurate treatment protocols.
  • Adams, D., Brandao, L., Peterman, C., Gupta, G., Patel, M., Fishman, S., Trenor, C. (2018). Vascular anomaly cases for the pediatric hematologist oncologist: An interdisciplinary review. Pediatric Blood and Cancer, 65. doi: 10.1002/pbc.26716
    • Cases were obtained from the American society of Pediatric Hematology/Oncology. Case one is a 2-month-old female with a hepatic vascular anomaly (p. 2). Case two is a three-week-old female with kapsoform hemangioendothelioma with kasabach-merritt phenomena. Case three is a one-year-old male infant with a venous malformation involving localized intravascular coagulopathy. Case four is a 14-year-old female with a lymphatic anomaly.
    • This study highlights the lack of protocols for multi-institution research related to the diagnosis and classification of vascular anomalies. The establishment of a Vascular Anomaly Special Interest Group has increased education, standardized management protocols, and initiated collaborative research for patients with vascular anomalies.
  • Very, M., Nagy, M., Carr, M., Collins, S., Brodsky. (2002). Hemangiomas and vascular malformations: Analysis of diagnostic accuracy. The Laryngyscope, 112: 612-615.
    • Ninety-eight patients evaluated at the Hemangioma and Vascular Birthmark Center at the Children’s Hospital of Buffalo between July 1998 – April 2000 were included in this study.
    • Accurate diagnosis of vascular malformations proves difficult for physicians. An interdisciplinary approach to diagnosis of vascular malformations leads to increased education, appropriate treatment, and improved outcomes. Vascular birthmarks were incorrectly diagnosed in 19.8% of the cases presented. This study indicates that most physicians incorrectly diagnose venous malformation as hemangiomas, leading to inaccurate treatment. Overall, 63% of parents were unsatisfied with the diagnostic experience, indicating a need for further education related to vascular malformations
  • Cazeau, C., Blei, F., Hermosa, M., Cavalli, R., Bocarra, O., Folster-Holst, R., Berdeuax, G., Delarue, A., Voisard, J. (2017). Burden of infantile hemangioma on family: An international observational cross-sectional study. Pediatric Dermatology, 34(3): 295-302. doi: 10.1111/pde.13133
    • Infants with newly diagnosed infantile hemangioma requiring systemic treatment were included in this study. A parent or caregiver present with the infant at time of consultation was instructed to anonymously completed the HFB questionnaire and the family member questionnaire. A total of 693 participants were included in this study.
    • Greater than 70% of parents in each country stated their child’s infantile hemangioma had a psychological effect on them, while psychological support was offered to less than 10% of families. The mean HFB score across all countries was 19.64, with slight variation per country most likely related to cultural differences. The HFB questionnaire provides insight into the familial interpretation of infantile hemangiomas and should be utilized in clinical practice for assisting families of affected patients
  • Kerr, A., Haas, S. (2014). Parental uncertainty in illness: Managing uncertainty surrounding an “orphan” illness. Journal of Pediatric Nursing, (29): 393-400. doi: 10.1016/j.pedn.2014.01.008
    • The sample included 55 English speaking parents of children with vascular anomalies. The participant-observations were conducted during the patient’s consultation, and the questionnaire was answered by the parent in the waiting room prior to consultation.
    • Parents of children with vascular anomalies experience five different classifications of uncertainty: normalization, information, orphan-illness, parental-proxy, and social stigma uncertainly. These levels of uncertainty lead to information-seeking behavior that often leads to further uncertainty and frustration. This study indicates the need for improved parental education related to vascular anomalies
  • Barnes, J., Guin, A., Allen, K., Jolly, C. (2016). Engaging parents in early childhood education: Perspectives of childcare providers. Family and Consumer Sciences Research Journal 44(4): 360-374. doi: 10.1111/fcsr.12164
    • Program coordinators for the Childcare Resource and Referral and Partnership for Children offices were contacted to elicit participant names. 14 participants attended one of three focus group sessions, ranging from 21-61 years old, associate to master’s degree education range, all with child education experience.
    • The best methods to ensure parental involvement in education include diverse communication techniques and a parent centered approach. Technology based communication such as texting, social media and websites ranked highest among preferred education techniques. Enough parental education positively effects the child’s well-being and success

Abstracts for Further Research

Percutaneous sclerotherapy for lymphatic malformations: a retrospective analysis of patient-evaluated improvement.

    • Alomari AI, Karian VE, Lord DJ, Padua HM, Burrows PE.
    • Division of Vascular and Interventional Radiology, Department of Radiology, Children’s Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.
PURPOSE: To evaluate the midterm outcomes of percutaneous sclerotherapy of lymphatic malformations (LMs) as judged by patients.
MATERIALS AND METHODS: A 13-item survey questionnaire was sent to 74 patients who had undergone at least one sclerotherapy procedure in our hospital from January 1997 through January 2003. Information regarding the anatomic location, specific symptoms reported, history, treatment satisfaction, postprocedural complications, and number of treatment sessions was elicited. Four sclerosing agents (as single agents or in combination with other agents) were used: ethanol, sodium tetradecyl sulfate 3% (STS), OK-432, and doxycycline.
RESULTS: Fifty-five patients or their caregivers completed the survey. The patients’ ages ranged from 6 months to 48 years at the time of the first procedure (mean, 12 y; median, 4 y). A majority of LMs were in the cervicofacial region. The size and location of the lesion, recurrent infection, and pain were the most frequent indications for treatment. Fifty-one percent of these patients received sclerotherapy alone or in conjunction with surgery as primary treatment. Ethanol was the most common sclerosing agent used, followed by doxycycline, STS, and OK-432. Response varied with the type of LM, with 100%, 86%, and 43% of the patients reporting good to complete response for macrocystic, microcystic, and combined-type LMs, respectively. Skin blistering and ulcers were the most common complications. Permanent complications were uncommon and were largely related to ethanol use.
CONCLUSIONS: Percutaneous sclerotherapy provides effective midterm primary treatment for LMs. Treatment outcomes appear to vary according to the morphology of the malformation.

Lymphatic malformation of the lingual base and oral floor.

    • Edwards PD, Rahbar R, Ferraro NF, Burrows PE, Mulliken JB.
    • Craniofacial Center, Division of Plastic and Oral Surgery, Department of Radiology, Children’s Hospital, Harvard Medical School, Boston, Mass, USA.
BACKGROUND: Lymphatic malformation of the tongue and floor of the mouth is associated with chronic airway problems, recurrent infection, and functional issues related to speech, oral hygiene, and malocclusion. There are no accepted anatomic guidelines or treatment protocols.
METHODS: This retrospective review focused on anatomic extent, treatment, complications, and airway management in 31 patients with lymphatic malformation of the lingual base and oral floor.
RESULTS: Involved adjacent structures included the neck (77 percent), mandible (41 percent), face (42 percent), lips (10 percent), pharynx (45 percent), and larynx (26 percent). Fifty-eight percent of patients required tracheostomy during infancy; decannulation was possible in two-thirds of these patients. Management included resection alone (42 percent), resection and sclerotherapy (26 percent), resection and laser coagulation (16 percent), sclerotherapy and laser coagulation (16 percent), and resection and radiofrequency ablation (3 percent). Resection involved the neck (58 percent), floor of the mouth (52 percent), and tongue (42 percent); there were often multiple procedures. Aspiration was tried with little success in 10 percent of patients. Virtually all patients had residual abnormal lymphatic tissue. Complications and post-therapeutic problems included infection (81 percent), neural damage (27 percent), difficulty in speech (23 percent), feeding problems (10 percent), and seroma or hematoma (6 percent). Associated dental/orthognathic conditions, particularly prognathism and anterior open bite, were documented in one-third of patients.
CONCLUSIONS: The initial step in the protocol is control of the neonatal airway. Staged cervical resection is undertaken in late infancy to early childhood; resection should also include abnormal tissue in the oral floor. Sclerotherapy is primarily for macrocystic disease or secondarily for recurrent cysts following partial extirpation. Vesicles of the mucous membranes and dorsal tongue are treated either by sclerotherapy, laser (carbon dioxide, yttrium-aluminum-garnet, or potassium-titanyl-phosphate), or radiofrequency ablation. Reduction for macroglossia is indicated for persistent protrusion or to allow correction of malocclusion. Embolization controls lingual bleeding. Orthognathic procedures are undertaken at the appropriate age, only after lingual size and position are acceptable.

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

Periorbital lymphatic malformation: clinical course and management in 42 patients.

    • Greene AK, Burrows PE, Smith L, Mulliken JB.
    • Vascular Anomalies Center, Division of Plastic Surgery, and the Department of Radiology, Children’s Hospital, Harvard Medical School, Boston, Mass 02115, USA.

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

Percutaneous treatment of low flow vascular malformations.

    • Burrows PE, Mason KP.
    • Department of Radiology, Children’s Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, USA. patricia.burrows@tch.harvard.edu

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

Rapidly involuting congenital hemangioma: clinical and histopathologic features.

    • Berenguer B, Mulliken JB, Enjolras O, Boon LM, Wassef M, Josset P, Burrows PE, Perez-Atayde AR, Kozakewich HP.
    • Division of Plastic Surgery, Children’s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.

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-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

    • Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M.
    • Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology, Brussels, Belgium.

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

Venous variations of the brain and cranial vault.

    • Burrows PE, Konez O, Bisdorff A.
    • Division of Interventional Radiology, Children’s Hospital, 300 Longwood Avenue, Boston, MA 02115, USA. patricia.burrows@tch.harvard.edu

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.”

Angiographic features of rapidly involuting congenital hemangioma (RICH).

    • Konez O, Burrows PE, Mulliken JB, Fishman SJ, Kozakewich HP.
    • Vascular and Interventional Radiology, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA. konezo@ccf.org

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:
http://www.springerlink.com/content/4cgv2h91dgtgdpuk/

Venous malformations of skeletal muscle.

    • Hein KD, Mulliken JB, Kozakewich HP, Upton J, Burrows PE.
    • Division of Plastic Surgery, Department of Radiology, Children’s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

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

Magnetic resonance of vascular anomalies.

    • Konez O, Burrows PE.
    • Division of Cardiovascular and Interventional Radiology, Department of Radiology, Children’s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

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.

Prenatal diagnosis of vascular anomalies.

    • Marler JJ, Fishman SJ, Upton J, Burrows PE, Paltiel HJ, Jennings RW, Mulliken JB.
    • Department of Surgery, the Vascular Anomalies Center, and the Advanced Fetal Care Center, Children’s Hospital, and Harvard Medical School, Boston, MA, USA.

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.

Pediatric hepatic vascular anomalies.

    • Burrows PE, Dubois J, Kassarjian A.
    • Department of Radiology, Children’s Hospital, Boston, MA 02115, USA. patricia.burrows@tch.harvard.edu

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.

Diffuse venous malformations of the upper limb: morphologic characterization by MRI and venography.

    • Claudon M, Upton J, Burrows PE.
    • Department of Radiology and Bouriez Research Foundation, University of Nancy 1, Hopital de Brabois, France.

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.

Life-threatening anomalies of the thoracic duct: anatomic delineation dictates management.

    • Fishman SJ, Burrows PE, Upton J, Hendren WH.
    • Department of Surgery, Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.

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.

Noninvoluting congenital hemangioma: a rare cutaneous vascular anomaly.

  • Enjolras O, Mulliken JB, Boon LM, Wassef M, Kozakewich HP, Burrows PE.
  • Consultation des Angiomes and Service d’Anatomie Pathologique, Hospital Lariboisiere, Paris, France.

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.

New Topical Treatment for Hemangiomas Reported by AMAA

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.


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