phaces - pediatrics
TRANSCRIPT
-
8/12/2019 PHACES - Pediatrics
1/6
DOI: 10.1542/peds.113.2.4122004;113;412-415Pediatrics
Andrea Donti, Roberto Formigari, Marco Bonvicini and Fernando Maria PicchioGabriele Bronzetti, Alessandro Giardini, Annalisa Patrizi, Daniela Prandstraller,
Reviewand Cardiac Defects and Eye Abnormalities (PHACE) Anomaly: Report andMalformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta,
Ipsilateral Hemangioma and Aortic Arch Anomalies in Posterior Fossa
http://www.pediatrics.org/cgi/content/full/113/2/412located on the World Wide Web at:
The online version of this article, along with updated information and services, is
rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275.Grove Village, Illinois, 60007. Copyright 2004 by the American Academy of Pediatrics. Alland trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elkpublication, it has been published continuously since 1948. PEDIATRICS is owned, published,PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly
.Provided by Hospital General Gregorio Maranon on October 29, 2009www.pediatrics.orgDownloaded from
http://www.pediatrics.org/cgi/content/full/113/2/412http://www.pediatrics.org/cgi/content/full/113/2/412http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/cgi/content/full/113/2/412 -
8/12/2019 PHACES - Pediatrics
2/6
Ipsilateral Hemangioma and Aortic Arch Anomalies in Posterior FossaMalformations, Hemangiomas, Arterial Anomalies, Coarctation of the
Aorta, and Cardiac Defects and Eye Abnormalities (PHACE) Anomaly:Report and Review
Gabriele Bronzetti, MD*; Alessandro Giardini, MD*; Annalisa Patrizi, MD; Daniela Prandstraller, MD*;Andrea Donti, MD*; Roberto Formigari, MD*; Marco Bonvicini, MD*; and Fernando Maria Picchio, MD*
ABSTRACT. Posterior fossa malformations, hemangio-mas, arterial anomalies, coarctation of the aorta, and car-diac defects and eye abnormalities (PHACE) is a rarecongenital anomaly with a broad spectrum of clinicalmanifestations with a striking female predominance. Wedescribe an infant with PHACE anomaly and aortic co-arctation who underwent cardiac catheterization toclearly define the complex anatomy of the aortic lesionbefore surgical repair. Review of the literature docu-ments a highly significant association between ipsilat-eral hemangiomas and cerebrovascular and aortic archanomalies. We conclude that cardiac catheterization isrequired to define the complex anatomy of aortic lesionsand should be performed in all patients with PHACE andevident aortic involvement to plan appropriate and safesurgical repair.Pediatrics 2004;113:412415;PHACE, aor-tic arch, hemangioma, aortic coarctation, cardiac cathe-terization.
ABBREVIATION. PHACE, posterior fossa malformations, heman-giomas, arterial anomalies, coarctation of the aorta, and cardiacdefects and eye abnormalities.
Infantile hemangiomas are common vascular le-sions, occurring in 8% of all newborns, and areusually solitary (90%). However, segmental hem-
angiomas, which may occur in unusual locations indeep tissue, occur in several syndromes.1 Posteriorfossa malformations, hemangiomas, arterial anoma-lies, coarctation of the aorta, and cardiac defects andeye abnormalities (PHACE) is an uncommon con-genital neurocutaneous syndrome with a striking fe-male predominance. Approximately 70% of affectedinfants have no more than 1 of the extracutaneousmanifestations.2,3 Hemangiomas and cardiovascular
malformations are seen also in supraumbilical mid-line raphe and midline defects.47 Several case re-ports exist of PHACE-associated cardiovascularanomalies, most often aortic coarctation or interrup-tion.129 We describe a further case with PHACEsyndrome with complex coarctation. A review of the
reported cases of PHACE shows a highly significantprevalence of ipsilateral hemangiomas and aorticarch anomalies.
CASE REPORTS
A 2-month-old girl with an extensive, left facial hemangiomaextending to the cheek, lips, and eye (Fig 1 a) was referred forsuspected aortic coarctation. Echocardiography showed normal
intracardiac anatomy with a persistent left superior vena cavadraining into the coronary sinus. A suprasternal scan documenteda complex aortic anomaly with severe narrowing of the posterioraspect of the aortic arch and absent antegrade flow at the level ofthe aortic isthmus. A color Doppler scan showed multiple collat-eral vessels running close to the aorta and evidence of periaorticextension of the hemangioma. Magnetic resonance imaging ex-cluded gross intracranial anomalies but confirmed the extensionof the hemangioma to the left orbit and the mediastinum withsevere aortic coarctation (Fig 1 b). Cardiac catheterization demon-strated type A interruption of the left-sided aortic arch distal to thetake-off of the left carotid artery followed by a tortuous andnarrow (3-mm) tract of descending aorta, receiving its sole supplyfrom the left vertebral artery (Fig 1 c). The same examinationshowed a distal take-off of the left subclavian artery with cranial-caudal flow toward the normal diaphragmatic aorta. The patientunderwent successful repair with interposition of a patch of cryo-preserved pericardium between the aortic arch and the diaphrag-matic aorta, using the interrupted tract as the roof of the recon-structed aorta.
A 40-day-old boy with a left-sided hemangioma extended tothe face and neck was referred to us a few months later. In thispatient, aortic angiography showed a looped left aortic arch withsignificant segmental narrowing of the descending thoracic aortaand with a stenotic and distally displaced origin of the left sub-clavian artery (Fig 1, d and e).
DISCUSSION
A review documents that the clinical sequencedescribed above is actually rather typical of othercases (n 32) with cardiovascular involvement230
traced by us in the MEDLINE database (usingPHACE, aorta, aortic coarctation, hemangioma, andhemangioma as abstract search terms; Table 1). In13 cases there was a right aortic arch with coarcta-tion or interruption, which is generally a rare find-ing.35,913,15,20,27 We considered the possibility that,as already suggested for epi-aortic vessel anomaliesin patients with PHACE anomaly,3,22 an ipsilateralrelationship might exist between the location of thehemangioma and the side of the aortic arch.
Excluding the 4 cases with undescribed hemangi-oma location, we noticed that all reported cases (11of 11) of right aortic arch also had a right hemangi-oma. Furthermore, a similar ipsilateral association
From *Pediatric Cardiology and Institute of Dermatology, University of
Bologna, Bologna, Italy.
Received for publication May 29, 2003; accepted Oct 29, 2003.
Reprint requests to (G.B.) Pediatric Cardiology and Adult Congenital Unit,
University of Bologna, Policlinico S. Orsola-Malpighi, Via Massarenti 9,
40138 Bologna, Italy. E-mail: [email protected]
PEDIATRICS (ISSN 0031 4005). Copyright 2004 by the American Acad-
emy of Pediatrics.
412 PEDIATRICS Vol. 113 No. 2 February2004.Provided by Hospital General Gregorio Maranon on October 29, 2009www.pediatrics.orgDownloaded from
http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/ -
8/12/2019 PHACES - Pediatrics
3/6
-
8/12/2019 PHACES - Pediatrics
4/6
interruption and blood supply to the descendingthoracic aorta). On clinical grounds, these observa-tions imply that routine transthoracic echocardiogra-phy33 cannot provide a complete preoperative func-tional and anatomic definition in patients withPHACE. We think that cardiac catheterization and
angiography and/or magnetic resonance should bemandatory to plan safe, complete surgical repair ofthe aortic defect.
ACKNOWLEDGMENTS
We acknowledge Mr Robin M.T. Cooke for scientific editingand Ms Claudia Cavicchi for valuable help.
REFERENCES
1. Burns AJ, Kaplan LC, Mulliken JB. Is there an association between
hemangioma and syndromes with dysmorphic features? Pediatrics.
1991;88:12571267
2. Frieden IJ, Reese V, Cohen D. PHACE syndrome. Arch Dermatol. 1996;
132:307311
3. Wong CH, Wright JG, Silove ED, Willets R, Brawn WJ. A new syndrome
of multiple hemangiomas, right dominant double aortic arch, and co-
arctation.J Thorac Cardiovasc Surg. 2001;121:12071209
4. Kishnani P, Iafolla AK, McConkie-Rosell A, Van Hove JLK, Kanter RJ,
Kahler SG. Hemangioma, supraumbilical midline raphe, and coarcta-
tion of the aorta with a right aortic arch: single causal entity? Am J Med
Genet. 1995;59:44 48
5. Crisponi G, Marras AR, Corrias A, Memo L, Gorinati M, Flora PG. Two
patients with varying combinations of sternal cleft, haemangiomas,midline abdominal raphe, coarctation of the aorta with a right aortic
arch. Clin Dysmorphol. 2000;9:103106
6. Raas-Rothschild A, Nir A, Gillis R, Rein AJ. Giant congenital aortic
aneurysm with cleft sternum, supraumbilical raphe, and
hemangiomatosis: report and review. Am J Med Genet. 2000;90:243245
7. Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The many faces of
PHACE syndrome. J Pediatr. 2001;139:117123
8. Gargiulo G, Pace Napoleone C, Giardini A, Formigari R, Pierangeli A.
Repair of aortic arch anomaly associated with cutaneous hemangioma.
Ann Thorac Surg. 2002;74:245246
9. Honey M, Lincoln JCR, Osborne MP, de Bono DP. Coarctation of aorta
with right aortic arch. Report of surgical correction in 2 cases: one with
associated anomalous origin of left circumflex coronary artery from the
right pulmonary artery. Br Heart J. 1975;37:937945
10. Vaillant L, Lorette G, Chantepie A, et al. Multiple cutaneous hemangi-
TABLE 1. Presentation Characteristics of the 33 Reported Cases of PHACE Syndrome
Authors IntracardiacDefect
Aortic Arch Anomaly Side of Hemangioma
Crisponi et al5 ASD RAA, AC RKishnani et al4 RAA, AC, ALSA RHoney et al9 Infracristal VSD RAA, AC, ALSA RVaillant et al10 RAA, AC, ALSA RGeller et al11 TA, PS RAA RReese et al12 RAA, AC, ALSA RBurrows et al13 ToF, PLSVC RAA, ALSA, LCAo, occluded R
RICAWong et al3 DAA (right dom), IAA B, ALSA R
DAA (right dom), IAA B, ALSA RYates et al27 VSD RAA, AC Both sidesPatel et al19 RAA, AC, ARSA, PDA RSchneeweiss et al15 LAA, AC, aneurism of RSA L
LAA, AC, aneurism of RSA L RAA, AC, aneurism of RSA RAA, AC
Goh et al14 LAA, IAA A, ARSA R LAA, AC, ARSA L
Raas-Rothschild et al6 ASD, VSD LAA, AA Both sidesSawaya and McLaurin24 ASD LAA, PDA LBruyere et al23 ASD LAA, PDA LCoats et al28 ASD LAA LFrieden et al2 LAA, aortic dilation, no LCA Both sidesHijii et al16 LAA, AC LQuecedo et al17 LAA, AC L
Hirsch et al18 Dextrocardia LAA, PDA LMolland and Purcell20 AC, LSA Buzenet et al21 LAA, AC, stenosis of brachiocephalic
trunk and LCAL
Pasic et al25 PLSVC LAA, AA, anomalous coronary arteries LSchieken et al26 LAA, AA, absent right innominate artery Both sidesMetry et al7 VSD LAA
VSD LAA, AC L LAA, AC, ARSA L
Pascual-Castroviejo et al22 LAA, AC, PDA LTA LAA, AC, ALCA L LAA, AC, ALCA L
Matsui et al30 LAA, ALSA LZeevi and Berant28 LAA, CAA, AA LGargiulo et al8 PLSVC LAA, AC, ALSA LPresent report PLSVC LAA, IAA, A, ALSA L
AA indicates aortic aneurysm; AC, aortic coarctation; ALCA, absent left carotid artery; ALSA, anomalous left subclavian artery; Ao, aorta;ARSA, anomalous right subclavian artery; ASD, atrial septal defect; CAA, cervical aortic arch; DAA, double aortic arch; IAA, interruptedaortic arch; L, left; LAA, left aortic arch; LCA, left carotid artery; PDA, patent ductus arteriosus; PLSVC, persistent left superior vena cava;PS, pulmonary stenosis; R, right; RAA, right aortic arch; RICA, right internal carotid artery; RSA, right subclavian artery; TA, tricuspidatresia; ToF, tetralogy of Fallot; VSD, ventricular septal defect.
414 AORTIC FACES OFPHACE ANOMALY.Provided by Hospital General Gregorio Maranon on October 29, 2009www.pediatrics.orgDownloaded from
http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/ -
8/12/2019 PHACES - Pediatrics
5/6
omas and coarctation of the aorta with right aortic arch Pediatrics.
1988;81:707710
11. Geller JD, Topper SF, Hashimoto K. Diffuse neonatal hemangiomatosis:
a new constellation of findings. J Am Acad Dermatol. 1991;24:816 818
12. Reese V, Frieden IJ, Paller AS, et al. Association of facial hemangiomas
with Dandy-Walker and other posterior fossa malformations. J Pediatr.
1993;122:379384
13. Burrows PE, Robertson RL, Mulliken JB, et al. Cerebral vasculopathy
and neurologic sequelae in infants with cervicofacial hemangioma:
report of eight patients. Radiology. 1988;207:601 607
14. Goh WHS, Lo R. A new 3C syndrome: cerebellar hypoplasia, cavernous
haemangioma, and coarctation of the aorta. Dev Med Child Neurol.
1993;35:637 641
15. Schneeweiss A, Blieden LC, Shem-Tov A, Motro M, Feigel A, NeufeldHN. Coarctation of the aorta with congenital hemangioma of the face
and neck and aneurysm or dilatation of a subclavian or innominate
artery. A new syndrome? Chest. 1982;82:186 187
16. Hijii T, Fukushige J, Tasaki K, Ueda K. Interferon-alpha therapy for
multiple hemangiomas associated with coarctation of the aorta. Heart
Vessels. 1996;11:211214
17. Quecedo E, Gil-Mateo MP, Pont V, Febrer MI, Aliaga A. Giant hemifa-
cial angioma and PHACE syndrome. Br J Dermatol. 1997;136:649 650
18. Hirsch JF, Pierre-Kahn A, Renier D, Sainte-Rose C, Hoppe-Hirsch E. The
Dandy-Walker malformation. A review of 40 cases.J Neurosurg. 1984;
61:515522
19. Patel SD, Cohen BA, Kan JS. Extensive facial hemangioma associated
with cardiac and abdominal anomalies. J Am Acad Dermatol. 1997;36:
636 638
20. Molland EA, Purcell M. Biliary atresia and the Dandy-Walker anomaly
in a neonate with 45,X Turners syndrome. J Pathol. 1975;115:22723021. Buzenet C, Hamel-Teillac D, Acar P, et al. Hemangiome facial associea
des anomalies arterielles et oculaires et a une coarctation de laorte:
syndrome PHACE [English translation: Facial hemangioma associated
with arterial anomalies, coarctation of the aorta, and eye abnormalities:
PHACES syndrome]. Ann Dermatol Venereol. 2000;127:292295
22. Pascual-Castroviejo I, Viano J, Moreno F, et al. Hemangiomas of the
head, neck, and chest with associated vascular and brain anomalies: a
complex neurocutaneous syndrome. Am J Neuroradiol. 1996;17:461 471
23. Bruyere HJ Jr, Viseskul C, Opitz JM, et al. A fetus with upper limb
amelia,caudal regression,and Dandy-Walker defect with an insulin-
dependent diabetic mother. Eur J Pediatr. 1980;134:139 143
24. Sawaya R, McLaurin RL. Dandy-Walker syndrome. Clinical analysis of
23 cases. J Neurosurg. 1981;55:89 98
25. Pasic M, Carrel T, Tonz M, Niederhauser U, Von Segesser LK, Turina
MI. Sternal cleft associated with vascular anomalies and micrognathia.
Ann Thorac Surg. 1993;56:165168
26. Schieken LS, Brenner JI, Baker KR, Ringel RE, Pacifico A. Aneurysm of
the ascending aorta associated with sternal cleft, cutaneous hemangi-oma, and occlusion of the right innominate artery in a neonate. Am
Heart J. 1987;113:202204
27. Yates R, Syed S, Tsang V, Harper JI. Haemangioma of the head and neck
with subglottic involvement and atypical coarctation. Br J Dermatol.
2000;143:686 688
28. Coats DK, Passe EA, Levy ML. PHACE: a neurocutaneous syndrome
with important ophthalmologic implications. Ophthalmology. 1999;106:
1739 1741
29. Zeevi B, Berant M. Unusual malformation of the aortic arch in a patient
with a large facial hemangioma. Cardiol Young. 1999;9:539 540
30. Matsui T, Ono T, Kito M, Yoshioka S, Ikeda T. Extensive facial straw-
berry mark associated with cerebellar hypoplasia and vascular abnor-
malities. J Dermatol. 1997;24:113116
31. Opitz JM. Editorial comment on the papers by Hersh et al and Kaplan
et al on sternal cleft. Am J Med Genet. 1985;21:201202
32. Opitz JM, Gilbert EF. CNS anomalies and the midline as a develop-mental field.Am J Med Genet. 1982;12:443 455
33. George B, DiSessa TG, Williams R, Friedman WF, Laks H. Coarctation
repair without cardiac catheterization in infants. Am Heart J. 1987;114:
14211425
AMERICAS SHAME
There are approximately two million people in jail in America today, 2 166 260at last count: more than four times as many people as thirty years ago. It is thelargest number in our history. More than 500 in every 100 000 Americans are
behind bars, between four and ten times the incarceration rate of any civilizedcountry in the world . . . But gross numbers are only part of the story. The otherpart is racial imbalance. Twelve percent of African-American men between twentyand thirty-four are currently behind bars (the highest figure ever recorded by the
Justice Department) compared with 1.6% of white men of comparable ages. Andaccording to the same source, 28% of black men will be sent to jail in theirlifetimes.
Bruner JS. Do not pass go. New York Review of Books. September 25, 2003
Submitted by Student
EXPERIENCE AND REASON 415.Provided by Hospital General Gregorio Maranon on October 29, 2009www.pediatrics.orgDownloaded from
http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/ -
8/12/2019 PHACES - Pediatrics
6/6
DOI: 10.1542/peds.113.2.4122004;113;412-415PediatricsAndrea Donti, Roberto Formigari, Marco Bonvicini and Fernando Maria Picchio
Gabriele Bronzetti, Alessandro Giardini, Annalisa Patrizi, Daniela Prandstraller,Review
and Cardiac Defects and Eye Abnormalities (PHACE) Anomaly: Report andMalformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta,
Ipsilateral Hemangioma and Aortic Arch Anomalies in Posterior Fossa
& ServicesUpdated Information
http://www.pediatrics.org/cgi/content/full/113/2/412including high-resolution figures, can be found at:
References
http://www.pediatrics.org/cgi/content/full/113/2/412#BIBLat:This article cites 32 articles, 9 of which you can access for free
Citations
shttp://www.pediatrics.org/cgi/content/full/113/2/412#otherarticleThis article has been cited by 2 HighWire-hosted articles:
Subspecialty Collections
ologyhttp://www.pediatrics.org/cgi/collection/genetics_and_dysmorph
Genetics & Dysmorphologyfollowing collection(s):This article, along with others on similar topics, appears in the
Permissions & Licensing
http://www.pediatrics.org/misc/Permissions.shtmltables) or in its entirety can be found online at:Information about reproducing this article in parts (figures,
Reprintshttp://www.pediatrics.org/misc/reprints.shtml
Information about ordering reprints can be found online:
.Provided by Hospital General Gregorio Maranon on October 29, 2009www.pediatrics.orgDownloaded from
http://www.pediatrics.org/cgi/content/full/113/2/412http://www.pediatrics.org/cgi/content/full/113/2/412http://www.pediatrics.org/cgi/content/full/113/2/412http://www.pediatrics.org/cgi/content/full/113/2/412#BIBLhttp://www.pediatrics.org/cgi/content/full/113/2/412#BIBLhttp://www.pediatrics.org/cgi/content/full/113/2/412#otherarticleshttp://www.pediatrics.org/cgi/content/full/113/2/412#otherarticleshttp://www.pediatrics.org/cgi/collection/genetics_and_dysmorphologyhttp://www.pediatrics.org/cgi/collection/genetics_and_dysmorphologyhttp://www.pediatrics.org/misc/Permissions.shtmlhttp://www.pediatrics.org/misc/Permissions.shtmlhttp://www.pediatrics.org/misc/Permissions.shtmlhttp://www.pediatrics.org/misc/reprints.shtmlhttp://www.pediatrics.org/misc/reprints.shtmlhttp://www.pediatrics.org/misc/reprints.shtmlhttp://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/http://www.pediatrics.org/misc/reprints.shtmlhttp://www.pediatrics.org/misc/Permissions.shtmlhttp://www.pediatrics.org/cgi/collection/genetics_and_dysmorphologyhttp://www.pediatrics.org/cgi/content/full/113/2/412#otherarticleshttp://www.pediatrics.org/cgi/content/full/113/2/412#BIBLhttp://www.pediatrics.org/cgi/content/full/113/2/412