Eulalia Baselga

Publications (30)125.62 Total impact

• Article: Initiation and Use of Propranolol for Infantile Hemangioma: Report of a Consensus Conference.

  Beth A Drolet, Peter C Frommelt, Sarah L Chamlin, Anita Haggstrom, Nancy M Bauman, Yvonne E Chiu, Robert H Chun, Maria C Garzon, Kristen E Holland, Leonardo Liberman, [......], Eulalia Baselga, Laura Cassidy, David H Darrow, Shawna Joachim, Eun-Kyung M Kwon, Kari Martin, Jonathan Perkins, Dawn H Siegel, Robert J Boucek, Ilona J Frieden
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  ABSTRACT: Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in nature and anticipate that they will be revised as more data are made available.
  PEDIATRICS 12/2012; · 4.47 Impact Factor
• Article: Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome.

  Dawn H Siegel, Joseph T C Shieh, Eun-Kyung Kwon, Eulalia Baselga, Francine Blei, Maria Cordisco, William B Dobyns, Kelly J Duffy, Maria C Garzon, David L Gibbs, [......], Sheri Mitchell, Elena Pope, Jennifer L Santoro, David A Stevenson, Pinar Bayrak-Toydemir, Beth Wilmot, Elizabeth A Worthey, Ilona J Frieden, Beth A Drolet, Ulrich Broeckel
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  ABSTRACT: PHACE syndrome is the association of large segmental facial hemangiomas and congenital anomalies, such as posterior fossa malformations, cerebral arterial anomalies, coarctation of the aorta, eye anomalies, and sternal defects. To date, the reported cases of PHACE syndrome have been sporadic, suggesting that PHACE may have a complex pathogenesis. We report here genomic copy number variation (CNV) analysis of 98 individuals with PHACE syndrome as a first step in deciphering a potential genetic basis of PHACE syndrome. A total of 3,772 CNVs (2,507 duplications and 1,265 deletions) were detected in 98 individuals with PHACE syndrome. CNVs were then eliminated if they failed to meet established criteria for quality, spanned centromeres, or did not contain genes. CNVs were defined as "rare" if not documented in the database of genomic variants. Ten rare CNVs were discovered (size range: 134-406 kb), located at 1q32.1, 1q43, 3q26.32-3q26.33, 3p11.1, 7q33, 10q24.32, 12q24.13, 17q11.2, 18p11.31, and Xq28. There were no rare CNV events that occurred in more than one subject. Therefore, further study is needed to determine the significance of these CNVs in the pathogenesis of PHACE syndrome.Journal of Investigative Dermatology advance online publication, 25 October 2012; doi:10.1038/jid.2012.367.
  Journal of Investigative Dermatology 10/2012; · 6.31 Impact Factor
• Article: Propranolol Use in PHACE Syndrome with Cervical and Intracranial Arterial Anomalies: Collective Experience in 32 Infants.

  Denise Metry, Ilona J Frieden, Christopher Hess, Dawn Siegel, Mohit Maheshwari, Eulalia Baselga, Sarah Chamlin, Maria Garzon, Anthony J Mancini, Julie Powell, Beth A Drolet
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  ABSTRACT: The objective of this retrospective study of patients evaluated between July 2008 and October 2011 in seven pediatric dermatology centers was to combine collective clinical experience using oral propranolol therapy in 32 infants with PHACE syndrome (Posterior fossa [brain malformations present at birth], Hemangioma [usually covering a large area of the skin of the head or neck >5 cm]; Arterial lesions [abnormalities of the blood vessels in the neck or head]; Cardiac abnormalities or aortic coarctation [abnormalities of the heart or blood vessels that are attached to the heart]; Eye abnormalities) with cervical or intracranial arterial anomalies. Patients were given an average daily dose of oral propranolol of 1.8 mg/kg divided two or three times per day for an average duration of 12.3 months. The main outcome measure was adverse neurologic events. Seven (22%) patients were categorized as being at higher risk for stroke, defined on magnetic resonance imaging as severe, long-segment narrowing or nonvisualization of major cerebral or cervical vessels without anatomic evidence of collateral circulation, often in the presence of concomitant cardiovascular comorbidities. Only one patient developed a change in neurologic status during propranolol treatment: mild right hemiparesis that remained static and improved while propranolol was continued. An additional three patients had worsening hemangioma ulceration or tissue necrosis during therapy. This is the largest report thus far of patients with PHACE syndrome treated with propranolol. Although no catastrophic neurologic events occurred, serious complications, particularly severe ulcerations, were seen in a minority of patients, and given the sample size, we cannot exclude the possibility that propranolol could augment the risk of stroke in this population. We propose radiologic criteria that may prove useful in defining PHACE patients as being at high or standard risk for stroke. We continue to advise caution in using systemic beta-blockers, particularly for children with vascular anomalies at higher risk for stroke. Use of the lowest possible dosage, slow dosage titration, three times per day dosing to minimize abrupt changes in blood pressure, and close follow-up, including neurologic consultation as needed, are recommended.
  Pediatric Dermatology 09/2012; · 1.07 Impact Factor
• Article: Agminated, eruptive pyogenic granuloma-like lesions developing over congenital vascular stains.

  Eulalia Baselga, Michel Wassef, Susana Lopez, William Hoffman, Maria Cordisco, Ilona J Frieden
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  ABSTRACT: We report three infants who developed agminated pyogenic granulomas over congenital vascular malformations, all of which had an aggressive growth pattern. There were no precipitating events such as laser therapy or surgery. Lesions were excised.
  Pediatric Dermatology 11/2011; 29(2):186-90. · 1.07 Impact Factor
• Article: Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain.

  Angela Hernández-Martín, Ignacio Garcia-Doval, Beatriz Aranegui, Pablo de Unamuno, Laura Rodríguez-Pazos, Maria-Antonia González-Enseñat, Asunción Vicente, Ana Martín-Santiago, Begoña Garcia-Bravo, Marta Feito, Eulalia Baselga, Sara Círia, Raúl de Lucas, Manuel Ginarte, Rogelio González-Sarmiento, Antonio Torrelo
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  ABSTRACT: Previous reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete. We sought to describe the prevalence of ARCI. We obtained data from 3 incomplete sources (dermatology departments, a genetic testing laboratory, and the Spanish ichthyosis association) and combined them using the capture-recapture method. We identified 144 living patients with ARCI. Of these, 62.5% had classic lamellar ichthyosis and 30.6% had congenital ichthyosiform erythroderma. The age distribution included fewer elderly patients than expected. The prevalence of ARCI in patients younger than 10 years, the best estimate as less subject to bias, was 16.2 cases per million inhabitants (95% confidence interval 13.3-23.0). According to the capture-recapture model, 71% of the patients were not being followed up in reference units, 92% did not have a genetic diagnosis, and 78% were not members of the ichthyosis association. The prevalence of ARCI in Spain and findings related to the Spanish health care system might not be generalizable to other countries. The prevalence of ARCI is higher than previously reported. Many patients are not being followed up in reference units, do not have a genetic diagnosis, and are not members of a patient association, indicating room for improvement in their care. Data suggesting a reduced number of older patients might imply a shorter life expectancy and this requires further study.
  Journal of the American Academy of Dermatology 10/2011; 67(2):240-4. · 3.99 Impact Factor
• Article: Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.

  Kimberly A Horii, Beth A Drolet, Ilona J Frieden, Eulalia Baselga, Sarah L Chamlin, Anita N Haggstrom, Kristen E Holland, Anthony J Mancini, Catherine C McCuaig, Denise W Metry, Kimberly D Morel, Brandon D Newell, Amy J Nopper, Julie Powell, Maria C Garzon
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  ABSTRACT: Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas. A multicenter prospective study of children with cutaneous infantile hemangiomas was conducted at pediatric dermatology clinics at Hemangioma Investigator Groups sites in the United States, Canada, and Spain between October 2005 and December 2008. Data were collected, and abdominal ultrasonography was performed on infants younger than 6 months old with five or more cutaneous infantile hemangiomas and those with one to four cutaneous infantile hemangiomas. Twenty-four (16%) of the 151 infants with five or more cutaneous infantile hemangiomas had hepatic hemangiomas identified on abdominal ultrasound, versus none of the infants with fewer than five (p = 0.003). Two of the 24 infants with hepatic hemangiomas received treatment specifically for their hepatic hemangiomas. Infants with five or more cutaneous infantile hemangiomas have a statistically significantly greater frequency of hepatic hemangiomas than those with fewer than 5. These findings support the recommendation of five or more cutaneous infantile hemangiomas as a threshold for screening infants younger than 6 months old for hepatic hemangiomas but also demonstrate that the large majority of these infants with hepatic hemangiomas do not require treatment.
  Pediatric Dermatology 05/2011; 28(3):245-53. · 1.07 Impact Factor
• Source

  Available from: ulaval.ca

  Article: Propranolol for infantile hemangiomas.

  Lorea Bagazgoitia, Antonio Torrelo, Juan Carlos López Gutiérrez, Angela Hernández-Martín, Paula Luna, Marta Gutiérrez, Antonio Baño, Amalia Tamariz, Margarita Larralde, Roser Alvarez, Nuria Pardo, Eulalia Baselga
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  ABSTRACT: Propranolol has been used successfully in a limited number of children with infantile hemangiomas. This multicenter retrospective study describes the efficacy and adverse effects of propranolol in infantile hemangioma. Seventy-one infants with infantile hemangiomas were treated with oral propranolol, 1 mg/kg/12 hours, for at least 12 weeks. A photograph based severity scoring assessment was performed by five observers to evaluate efficacy, utilizing a scoring system of 10 as the original infantile hemangioma before treatment and 0 as completely normal skin. The mean of the five independent measurements was used in the analysis. Propranolol was a rapid and effective treatment for infantile hemangiomas at 4 weeks (p < 0.001), at 8 weeks (p < 0.001 compared to the 4 wks value), at 12 weeks (p < 0.05 compared to the 8 wks value), and thereafter up to 32 weeks (p < 0.01 compared to the 16 wks value). The response of infantile hemangiomas to propranolol was similar regardless of sex, age at onset of treatment, type of involvement (segmental and nonsegmental), facial segments affected, special locations (eyelid, nasal tip, and parotid region), ulceration, and depth of infantile hemangiomas. Very few side effects were reported; mainly agitated sleep in 10 of 71 patients. In the series of patients in this study, oral propranolol 2 mg/kg/day was a well-tolerated and effective treatment for infantile hemangiomas. Prospective studies are needed to establish the exact role of propranolol in the treatment of infantile hemangiomas.
  Pediatric Dermatology 03/2011; 28(2):108-14. · 1.07 Impact Factor
• Article: Prospective study of spinal anomalies in children with infantile hemangiomas of the lumbosacral skin.

  Beth A Drolet, Sarah L Chamlin, Maria C Garzon, Denise Adams, Eulalia Baselga, Anita N Haggstrom, Kristen E Holland, Kimberly A Horii, Anna Juern, Anne W Lucky, Anthony J Mancini, Catherine McCuaig, Denise W Metry, Kimberly D Morel, Brandon D Newell, Amy J Nopper, Julie Powell, Ilona J Frieden
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  ABSTRACT: To prospectively evaluate a cohort of patients with infantile hemangioma in the midline lumbosacral region for spinal anomalies to determine the positive predictive value of infantile hemangioma for occult spinal anomalies and to make evidence-based recommendations for screening. A multicenter prospective cohort study was performed at 9 Hemangioma Investigator Group sites. Intraspinal abnormalities were detected in 21 of 41 study participants with a lumbosacral infantile hemangioma who underwent a magnetic resonance imaging evaluation. The relative risk for all patients with lumbosacral infantile hemangiomas for spinal anomalies was 640 (95% confidence interval [CI], 404-954), and the positive predictive value of infantile hemangioma for spinal dysraphism was 51.2%. Ulceration of the hemangioma was associated with a higher risk of having spinal anomalies. The presence of additional cutaneous anomalies also was associated with a higher likelihood of finding spinal anomalies; however, 35% of the infants with isolated lumbosacral infantile hemangiomas had spinal anomalies, with a relative risk of 438 (95% CI, 188-846). The sensitivity for ultrasound scanning to detect spinal anomalies in this high-risk group was poor at 50% (95% CI, 18.7%-81.3%), with a specificity rate of 77.8% (95% CI, 40%-97.2%). Infants and children with midline lumbosacral infantile hemangiomas are at increased risk for spinal anomalies. Screening magnetic resonance imaging is recommended for children with these lesions.
  The Journal of pediatrics 11/2010; 157(5):789-94. · 4.02 Impact Factor
• Article: Risk for PHACE syndrome in infants with large facial hemangiomas.

  Anita N Haggstrom, Maria C Garzon, Eulalia Baselga, Sarah L Chamlin, Ilona J Frieden, Kristen Holland, Sheilagh Maguiness, Anthony J Mancini, Catherine McCuaig, Denise W Metry, Kimberly Morel, Julie Powell, Susan M Perkins, Dawn Siegel, Beth A Drolet
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  ABSTRACT: This study was conducted to determine the prevalence of posterior fossae of the brain, arterial anomalies, cardiac anomalies, and eye anomalies (PHACE) in infants with large facial hemangiomas. The extracutaneous manifestations of PHACE may be associated with significant morbidity, and the prevalence of PHACE in patients with facial hemangiomas has not previously been reported. A multicenter prospective study was conducted with 108 infants who had large facial hemangiomas and were systematically evaluated for manifestations of PHACE. The prevalence of PHACE and its extracutaneous manifestations in this cohort was calculated. The relationship between hemangioma distribution and the manifestations of PHACE was analyzed. Thirty-three (31%) of 108 had PHACE. Thirty of the 33 patients with PHACE had >1 extracutaneous finding. The risk for PHACE syndrome was higher in infants with larger hemangiomas and in those with hemangiomas that encompassed >1 facial segment. The most common extracutaneous anomalies observed in infants with PHACE were of the arteries of the cerebrovasculature (91%) and cardiac anomalies (67%). Upper face (frontotemporal and frontonasal) hemangiomas were commonly observed in infants with PHACE; isolated maxillary hemangiomas were rarely associated with PHACE. In infants with large facial hemangiomas, one-third have extracutaneous manifestations consistent with the diagnosis of PHACE syndrome, most commonly cerebrovascular and cardiovascular anomalies. The high prevalence of arterial anomalies in this cohort has implications for clinical management and future research regarding the pathophysiology of PHACE.
  PEDIATRICS 08/2010; 126(2):e418-26. · 4.47 Impact Factor
• Article: Risk of hepatic hemangiomas in infants with large hemangiomas.

  Kimberly A Horii, Beth A Drolet, Eulalia Baselga, Ilona J Frieden, Denise W Metry, Kimberly D Morel, Brandon D Newell, Amy J Nopper, Maria C Garzon
  Archives of dermatology 02/2010; 146(2):201-3. · 4.76 Impact Factor
• Article: Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

  Vinciane Wouters, Nisha Limaye, Melanie Uebelhoer, Alexandre Irrthum, Laurence M Boon, John B Mulliken, Odile Enjolras, Eulalia Baselga, Jonathan Berg, Anne Dompmartin, Sten A Ivarsson, Loshan Kangesu, Yves Lacassie, Jill Murphy, Ahmad S Teebi, Anthony Penington, Paul Rieu, Miikka Vikkula
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  ABSTRACT: Mutations in the angiopoietin receptor TIE2/TEK have been identified as the cause for autosomal dominantly inherited cutaneomucosal venous malformation (VMCM). Thus far, two specific germline substitutions (R849W and Y897S), located in the kinase domain of TIE2, have been reported in five families. The mutations result in a fourfold increase in ligand-independent phosphorylation of the receptor. Here, we report 12 new families with TEK mutations. Although the phenotype is primarily characterized by small multifocal cutaneous vascular malformations, many affected members also have mucosal lesions. In addition, cardiac malformations are observed in some families. Six of the identified mutations are new, with three located in the tyrosine kinase domain, two in the kinase insert domain, and another in the carboxy terminal tail. The remaining six are R849W substitutions. Overexpression of the new mutants resulted in ligand-independent hyperphosphorylation of the receptor, suggesting this is a general feature of VMCM-causative TIE2 mutations. Moreover, variation in the level of activation demonstrates, to the best of our knowledge for the first time, that widely differing levels of chronic TIE2 hyperphosphorylation are tolerated in the heterozygous state, and are compatible with normal endothelial cell function except in the context of highly localized areas of lesion pathogenesis.
  European journal of human genetics: EJHG 11/2009; 18(4):414-20. · 3.56 Impact Factor
• Article: PHACE Syndrome: Current Knowledge, Future Directions

  Denise W. Metry M.D, Maria C. Garzon M.D, Beth A. Drolet M.D, Peter Frommelt M.D, Anita Haggstrom M.D, Judith Hall M.D, Ph.D. Christopher P. Hess M.D, Geoffrey L. Heyer M.D, Dawn Siegel M.D, Eulalia Baselga M.D, [......], Dawn Siegel, Eulalia Baselga, William Katowitz, Moise L. Levy, Anthony Mancini, Mandi L. Maronn, Thuy Phung, Elena Pope, Grace Sun, Ilona J. Frieden
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  ABSTRACT: On November 7–8, 2008, physicians gathered in Houston Texas for the first-ever workshop on PHACE syndrome, an important and recently described neurocutaneous syndrome. This article represents a summary of the discussions held at that workshop, which was attended by a broad range of medical specialists.
  Pediatric Dermatology 06/2009; 26(4):381 - 398. · 1.07 Impact Factor
• Article: Histologic persistence of a congenital melanocytic nevus of the scalp despite clinical involution.

  Eva Vilarrasa, Eulalia Baselga, Catalina Rincon, Agustin Alomar
  Journal of the American Academy of Dermatology 01/2009; 59(6):1091-2. · 3.99 Impact Factor
• Source

  Available from: archderm.ama-assn.org

  Article: Infantile hemangiomas with unusually prolonged growth phase: a case series.

  Heather A Brandling-Bennett, Denise W Metry, Eulalia Baselga, Anne W Lucky, Denise M Adams, Maria R Cordisco, Ilona J Frieden
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  ABSTRACT: Most infantile hemangiomas (IHs) complete their proliferative growth phase before 9 months of age, but those with unusually prolonged growth create unique clinical challenges. We performed a retrospective case series of IHs with prolonged growth to further characterize these lesions and their treatment. We identified 23 patients as having IHs with prolonged growth after 9 months of age, with growth to a mean age of 17 months. All of the IHs had a deep dermal to subcutaneous component, all had either segmental or indeterminate morphologic characteristics, and 39% involved the parotid gland. A total of 20 of 23 received prolonged treatment with systemic corticosteroids (mean duration of treatment, 11 months), and 9 of 20 received additional systemic therapies (vincristine sulfate and/or interferon alfa-2a or alfa-2b). Prolonged growth was observed primarily in IHs with a deep component and segmental morphologic characteristics. Recognition of this subset of hemangiomas is important for clinicians, and further study of IHs may provide clues to their pathogenesis.
  Archives of dermatology 01/2009; 144(12):1632-7. · 4.76 Impact Factor
• Article: Comparison of infantile hemangiomas in preterm and term infants: a prospective study.

  Maria C Garzon, Beth A Drolet, Eulalia Baselga, Sarah L Chamlin, Anita N Haggstrom, Kimberly Horii, Anne W Lucky, Anthony J Mancini, Denise W Metry, Brandon Newell, Amy J Nopper, Ilona J Frieden
  Archives of dermatology 10/2008; 144(9):1231-2. · 4.76 Impact Factor
• Article: Growth characteristics of infantile hemangiomas: implications for management.

  Linda C Chang, Anita N Haggstrom, Beth A Drolet, Eulalia Baselga, Sarah L Chamlin, Maria C Garzon, Kimberly A Horii, Anne W Lucky, Anthony J Mancini, Denise W Metry, Amy J Nopper, Ilona J Frieden
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  ABSTRACT: Infantile hemangiomas often are inapparent at birth and have a period of rapid growth during early infancy followed by gradual involution. More precise information on growth could help predict short-term outcomes and make decisions about when referral or intervention, if needed, should be initiated. The objective of this study was to describe growth characteristics of infantile hemangioma and compare growth with infantile hemangioma referral patterns. A prospective cohort study involving 7 tertiary care pediatric dermatology practices was conducted. Growth data were available for a subset of 526 infantile hemangiomas in 433 patients from a cohort study of 1096 children. Inclusion criteria were age younger than 18 months at time of enrollment and presence of at least 1 infantile hemangioma. Growth stage and rate were compared with clinical characteristics and timing of referrals. Eighty percent of hemangioma size was reached during the early proliferative stage at a mean age of 3 months. Differences in growth between hemangioma subtypes included that deep hemangiomas tend to grow later and longer than superficial hemangiomas and that segmental hemangiomas tended to exhibit more continued growth after 3 months of age. The mean age of first visit was 5 months. Factors that predicted need for follow-up included ongoing proliferation, larger size, deep component, and segmental and indeterminate morphologic subtypes. Most infantile hemangioma growth occurs before 5 months, yet 5 months was also the mean age at first visit to a specialist. Recognition of growth characteristics and factors that predict the need for follow-up could help aid in clinical decision-making. The first few weeks to months of life are a critical time in hemangioma growth. Infants with hemangiomas need close observation during this period, and those who need specialty care should be referred and seen as early as possible within this critical growth period.
  PEDIATRICS 09/2008; 122(2):360-7. · 4.47 Impact Factor
• Source

  Available from: Philippe Clapuyt

  Article: Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.

  Nicole Revencu, Laurence M Boon, John B Mulliken, Odile Enjolras, Maria Rosa Cordisco, Patricia E Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulalia Baselga, [......], Isabelle Quere, Dawn H Siegel, Enza Maria Valente, Annet Van Hagen, Liselot Van Hest, Keith K Vaux, Asuncion Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula
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  ABSTRACT: Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the disorder. Importantly, one-third had fast-flow vascular lesions. Among them, we observed severe intracranial AVMs, including vein of Galen aneurysmal malformation, which were symptomatic at birth or during infancy, extracranial AVM of the face and extremities, and Parkes Weber syndrome (PKWS), previously considered sporadic and nongenetic. These fast-flow lesions can be differed from the other two genetic AVMs seen in hereditary hemorrhagic telangiectasia (HHT) and in phosphatase and tensin homolog (PTEN) hamartomatous tumor syndrome. Finally, some CM-AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2. This is the first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity.
  Human Mutation 08/2008; 29(7):959-65. · 5.69 Impact Factor
• Article: Abortive or minimal-growth hemangiomas: Immunohistochemical evidence that they represent true infantile hemangiomas.

  Francisca Corella, Xavier Garcia-Navarro, Adriana Ribe, Agustin Alomar, Eulalia Baselga
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  ABSTRACT: Infantile hemangiomas have a characteristic natural history of rapid proliferation in the first weeks of life followed by spontaneous involution. At birth, they may be present as a precursor lesion. Sometimes one may see precursor lesions that never undergo a growth phase or that undergo minimal growth. It is unclear the exact nature of these precursor-like lesions. We sought to describe the morphology and histopathology of these precursor-like lesions. We describe 4 patients with macules resembling precursor lesions of hemangiomas that did not show proliferation phase or minimal growth. The histopathologic and immunohistochemical study with glucose transporter-1 was performed in all of these cases. The skin biopsy specimen showed superficial ectatic vessels that reacted with anti-glucose transporter-1 antibodies. All skin biopsy specimens exhibited capillary lobules in papillary dermis and, in two of them, in the reticular dermis and subcutis. This text is limited by the number of cases reported. Precursor lesions of hemangioma that do not show proliferation phase or minimal growth represent, in the view of glucose transporter-1 immunoreactivity, true hemangiomas of infancy with an aborted or arrested growth cycle.
  Journal of the American Academy of Dermatology 05/2008; 58(4):685-90. · 3.99 Impact Factor
• Article: Multicenter prospective study of ulcerated hemangiomas.

  Sarah L Chamlin, Anita N Haggstrom, Beth A Drolet, Eulalia Baselga, Ilona J Frieden, Maria C Garzon, Kimberly A Horii, Anne W Lucky, Denise W Metry, Brandon Newell, Amy Jo Nopper, Anthony J Mancini
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  ABSTRACT: To identify clinical features of infants with ulcerated infantile hemangiomas. Cross-sectional analysis was conducted within a prospective cohort study of children with infantile hemangiomas. Children younger than 12 years of age were recruited. Demographic and prenatal/perinatal information was collected. Hemangioma size, location, subtype, course, complications, and treatments were recorded. One thousand ninety-six patients were enrolled, and 173 (15.8%) patients experienced ulceration. Ulceration occurred in 192 (9.8%) of 1960 [corrected] total hemangiomas. Hemangiomas with ulcerations were more likely large, mixed clinical type, segmental morphologic type, and located on the lower lip, neck, or anogenital region. Ulceration occurred at a median age of 4 months, most often during the proliferative phase. Children with ulcerated hemangiomas were more likely to present to a pediatric dermatologist at a younger age and to require treatment. Bleeding occurred in 41% of ulcerated lesions but was rarely of clinical significance. Infection occurred in 16%. Ulceration occurs in nearly 16% of patients with infantile hemangiomas, most often by 4 months of age, during the proliferative phase. Location, size, and clinical and morphologic type are associated with an increased risk for development of ulceration.
  The Journal of pediatrics 01/2008; 151(6):684-9, 689.e1. · 4.02 Impact Factor
• Article: Prospective study of infantile hemangiomas: demographic, prenatal, and perinatal characteristics.

  Anita N Haggstrom, Beth A Drolet, Eulalia Baselga, Sarah L Chamlin, Maria C Garzon, Kimberly A Horii, Anne W Lucky, Anthony J Mancini, Denise W Metry, Brandon Newell, Amy J Nopper, Ilona J Frieden
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  ABSTRACT: To characterize demographic, prenatal, and perinatal features of patients with infantile hemangiomas and to determine the importance of these factors in predicting rates of complication and treatment. We conducted a prospective study at 7 U.S. pediatric dermatology clinics. A consecutive sample of 1058 children, aged 12 years and younger, with infantile hemangiomas was enrolled between September 2002 and October 2003. A standardized questionnaire was used to collect demographic, prenatal, perinatal, and hemangioma-specific data. National Vital Statistic System Data (NVSS) was used to compare demographic variables and relevant rates of prenatal events. In comparison with the 2002 United States National Vital Statistics System birth data, we found that infants with hemangiomas were more likely to be female, white non-Hispanic, premature (P < .0001) and the product of a multiple gestation (10.6% versus 3.1%; P < .001). Maternal age was significantly higher (P < .0001), and placenta previa (3.1%) and pre-eclampsia (11.8%) were more common. Infants with hemangiomas are more likely to be female, white non-Hispanic, premature, and products of multiple gestations. Prenatal associations include older maternal age, placenta previa, and pre-eclampsia. No demographic, prenatal, and perinatal factors predicted higher rates of complications or need for treatment.
  The Journal of pediatrics 03/2007; 150(3):291-4. · 4.02 Impact Factor