Journal of Pediatric Surgery (2011) 46, 1214–1221

[Link]/locate/jpedsurg

Vascular anomalies of the male genitalia☆,☆☆

Ann M. Kulungowski a,d,e , Carolyn C. Schook a,d,e , Ahmad I. Alomari b,e ,
Adam M. Vogel c , John B. Mulliken d,e , Steven J. Fishman a,e,⁎
a
Department of Surgery, Children's Hospital Boston, Boston, MA 02115, USA
b
Department of Radiology, Children's Hospital Boston, Boston, MA 02115, USA
c
Department of Pediatric Surgery, The University of Texas Medical School at Houston, Houston, TX 77030, USA
d
Department of Plastic and Oral Surgery, Children's Hospital Boston, Boston, MA 02115, USA
e
Vascular Anomalies Center, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA

Received 19 March 2011; accepted 26 March 2011

Key words:
Abstract
Arteriovenous
Purpose: Vascular tumors and malformations of the male genitalia can affect urinary, sexual,
malformation;
reproductive, and emotional function.
Genital;
Methods: Male patients with a genital lesion evaluated or treated at our center from 1995 to 2010 were
Lymphatic malformation;
reviewed to analyze presentation, diagnosis, treatment modalities, and outcome.
Vascular anomaly;
Results: Of the 3889 male patients, 117 had a vascular anomaly of the genitalia: 12 tumors and 105
Vascular malformation;
malformations. The referring diagnosis was accurate in 72.7% of patients with a tumor, whereas 46.3%
Venous malformation
of malformations were misdiagnosed. Tumors included infantile hemangioma (n = 10) and kaposiform
lymphatic anomaly (n = 2). Common vascular malformations were lymphatic (n = 46), venous (n = 33),
and capillary-lymphatic-venous (n = 16). Presenting signs for tumors included ulceration (33.0%) and
ambiguous genitalia (25.0%). Malformations manifested with swelling (40.0%), fluid leakage (16.2%),
and pain (16.2%). Treatment was necessary for 69.9% (79/113) of patients. The remaining lesions (34/
113) were observed. Tumor management included observation, pharmacotherapy, and excision.
Malformations were largely treated with sclerotherapy and/or surgical procedures.
Conclusions: Vascular anomalies of the male genitalia are uncommon and frequently misdiagnosed.
Accurate diagnosis can be made and appropriate treatment can be instituted based on presentation,
natural history, and radiographic imaging. Observation and pharmacotherapy are the mainstays of tumor
management. Malformations require sclerotherapy and/or resection. Interdisciplinary care optimizes
outcomes for males with these often-disfiguring vascular lesions.
© 2011 Elsevier Inc. All rights reserved.

☆
Statement of financial interest: No financial support or benefits were
Vascular anomalies are disorders of blood vessels that
given to the authors from any source that is related to the scientific work usually present in infancy and childhood. They are divided
reported in this article. into 2 groups, tumors and malformations, based on biologic
☆☆
Lists of products used: No products or devices were used in and clinical behavior (Table 1) [1]. Tumors have a
this article. proliferating endothelium, whereas malformations exhibit
⁎ Corresponding author. Department of Surgery, Children's Hospital
Boston, Boston, MA 02115, USA. Tel.: +1 617 355 3040; fax: +1 617 730
normal endothelial cell turnover. Vascular anomalies, partic-
0752. ularly those involving the male genitalia, cause considerable
E-mail address: [Link]@[Link] (S.J. Fishman). distress. These lesions can adversely impact a patient's self-

0022-3468/$ – see front matter © 2011 Elsevier Inc. All rights reserved.
doi:10.1016/[Link].2011.03.056
Vascular anomalies of the male genitalia 1215

image, inflict pain, and alter function. Accurate diagnosis is (Table 2). Tumors presented in early infancy (0.1 ± 0.1
essential to ensure proper treatment and to optimize outcomes years) compared with malformations (2.8 ± 5.0 years) (P b
for these potentially life-altering anomalies. .001). The referring diagnosis was accurate in 72.7% of
tumors and only 53.7% of malformations. Tumors were
either infantile hemangioma (IH) (n = 10) or kaposiform
lymphatic anomaly (KLA) (n = 2). Slow-flow malformations
1. Materials and methods (n = 99) were more numerous than fast-flow lesions (n = 6).
The most frequent slow-flow anomalies were lymphatic
1.1. Study population (LMs; n = 46), venous (VMs; n = 33), and capillary-
lymphatic-venous (CLVMs; n = 16) malformations. The
After approval by the Committee on Clinical Investiga- fast-flow anomalies were arteriovenous (n = 2), capillary
tion of Children's Hospital Boston, the Vascular Anomalies malformation (CM)–arteriovenous (n = 2), and capillary-
Center (VAC) database was culled for all male patients lymphatic-arteriovenous (n = 2).
with a vascular anomaly of the genitalia who presented to The external male genitalia, penis or scrotum, was
our center from 1995 to 2010. Patients were included if involved in all patients. Tumors were limited to the external
the lesion involved the penis, scrotum, urethra, and/or genitalia. Malformations extended into the urethra (n = 10),
prostate. Records were retrospectively reviewed to study bladder (n = 6), and prostate (n = 1). Involvement or
presentation, anatomical location, symptoms, referring extension beyond the genitalia occurred in 50.0% of
diagnosis, VAC diagnosis, imaging, treatment modalities, tumors and 75.2% of malformations. Presenting signs for
and outcome. tumors included ulceration (33.0%), ambiguous genitalia
(25.0%), and bleeding (16.7%). Additional findings in
the subgroup of patients with perineal IH included cloacal
1.2. Statistical analysis
exstrophy, microphallus, cryptorchidism, and infantile
hepatic hemangiomas.
Statistical analysis of results was performed using the
Vascular malformations presented with swelling (40.0%),
Mann-Whitney U tests for comparison between tumors and
pain (16.2%), fluid leakage (16.2%), bleeding (14.3%), and
malformations. Differences were considered significant
infection (10.5%). More specific genitourinary symptoms
when P b .05. Calculations were performed in GraphPad
were hematuria (n = 15), chylous reflux (n = 8), altered
Prism version 16.0 (GraphPad Software, Inc, La Jolla, CA).
urinary mechanics (n = 6), dysuria (n = 5), cryptorchidism
(n = 4), bladder outlet obstruction (n = 3), depression (n = 3),
erectile dysfunction (n = 2), and ambiguous genitalia (n = 1).
2. Results
2.2. Diagnosis
2.1. Tumors and malformations
The diagnosis of a vascular anomaly was made in 25.6%
Of the 3889 male patients registered with a vascular (n = 30) of patients on the basis of clinical history and
anomaly, only 117 (3.0%) had a lesion of the male physical examination. Radiographic studies were used for
genitalia. Tumors comprised 10.3% (n = 12) and diagnostic clarification in 57.3% (n = 67) of cases.
malformations 89.7% (n = 105) of the study population Histopathology was reviewed in 17.1% (n = 20) of patients.

Table 1 International Society for the Study of Vascular Anomalies classification

Tumors Slow-flow malformation Fast-flow malformation
IH Capillary Arteriovenous fistula
Congenital hemangioma Lymphatic Arteriovenous
Rapidly involuting congenital hemangioma Microcystic
Noninvoluting congenital hemangioma Macrocystic
Lymphedema
KHE Venous
KLA
Pyogenic granuloma Combined Combined
CLVM CM-AVM
Capillary-venous Capillary-lymphatic-arteriovenous
malformation
Lymphatic-venous
1216 A.M. Kulungowski et al.

2.3. Treatment

No
location involved?

12
12
Other anatomical

–
–

–
–

–
–
6

1
Treatment was administered to 69.9% (79/113) of
patients: 50.0% (6/12) of tumors and 72.3% (73/101) of
malformations. The remaining lesions (34/113) were
Yes
4
2
1
34
21
15
2
1
1
2
2
observed. Tumors were treated earlier at 2.8 years
(range, 0-5.8) compared with malformations at 10.0 years
(range, 4.0-17.0) (P b .0001). Tumors were managed with
Prostate

observation (n = 6), pharmacotherapy (n = 3), surgical

excision (n = 1), and multimodal therapy (n = 2).
–
–
–
–

–
–
–
–
–
–
1 Malformations were largely treated with surgical excision
alone (n = 30) or combination therapy (n = 30) (eg,
Bladder
Genitourinary tract

compression and/or sclerotherapy with resection). Pharma-

cotherapy (n = 8) and sclerotherapy/embolization (n = 5)
–
–
–

–
–
–
–
–
3
2
1

were rarely used in isolation. The remaining malformations

were managed expectantly (n = 28). Malformations
Urethra

averaged 2.2 treatments per patient. Eleven patients

–
–
–

–
–
–

received misdirected therapies before consultation with

2
3
3

our VAC that included groin explorations for “hernia”

(n = 7) or “varicocele” (n = 1) and angiogenic inhibitors
Penis/scrotum

(n = 3) for malformations.

2.4. Follow-up
24
14
–
–
–

–
8
2
1

1
1

Follow-up clinical information was available for 7

Penis
External genitalia

(58.3%) vascular tumors and 63 (60.0%) vascular

–
–
–
–
1
2
1
1
1
4

malformations. Median follow-up interval was 2.5 years

(range, 0-6.3). Five (5/10) patients with IH returned for
Scrotum

follow-up physical examination. Regression of IH occurred,

as expected, in 4 (2 treated and 2 observed); the remaining
21
–
–

–
–

–
9

8
4

2
1

tumor was surgically excised owing to ulceration (n = 1).

Ongoing proliferation was noted in both patients with KLA.
8.5
1.7
0.9
39.3
28.2
13.7
1.7
0.9
1.7
1.7
1.7

Of the 28 vascular malformations managed expectantly, 15

%

had follow-up information. Observed lesions remained

stable (n = 7), progressed (n = 4), or improved (n = 2).
10
2
1
46
33
16
2
1
2
2
2

Two patients in the observation group died secondary to

n

extragenital complications of the vascular malformations.

Follow-up was available for 20 of 30 surgically excised
Malformation
Malformation
Malformation
Malformation
Malformation
Malformation
Malformation
Malformation
Malformation

malformations. Eleven improved, whereas the remaining

progressed or partially reexpanded. Twenty-three (23/30)
Tumor
Tumor
Type

patients with a malformation who received multimodal

Lesions and anatomical distribution

therapy improved (74.0%, n = 17), recurred (17.4%, n = 4),

stabilized (4.3%, n = 1), or progressed (4.3%, n = 1).
Capillary malformation–arteriovenous

Patients receiving pharmacotherapy, sclerotherapy, or em-

bolization alone reported improvement (n = 4), stabilization
Capillary-lymphatic-arteriovenous

(n = 1), and progression (n = 2).

Capillary-lymphatic-venous

Lymphatic-venous

3. Discussion
Capillary-venous

Arteriovenous
Lymphatic

Lesions of the male genitalia represent a small proportion

Diagnosis

Capillary
Table 2

Venous

of patients with vascular anomalies. A critical step in the

KLA

management of these distressing lesions is distinguishing

IH

between tumors and malformations.

Vascular anomalies of the male genitalia 1217

3.1. Infantile hemangioma scarring and disfigurement that could potentially lead to a
negative self-image. The association of perineal IH with
Infantile hemangioma, a benign tumor of the endotheli- urogenital, anorectal, and spinal malformations is well
um, is the most common tumor of infancy (Fig. 1). It is more known [9-14]. The IHs seen in conjunction with anogenital
prevalent in whites (4%) and females (3 females: 1 male) malformations are frequently superficial with a distinctive
[2,3]. In our series, IH was identified in 8.5% of patients with reticular network [9]. Imaging should be obtained when a
a vascular anomaly, predictably lower than the 24.4% large perineal IH is present to detect possible occult spinal
occurrence observed in our series of vascular anomalies of dysraphism, tethered spinal cord, as well as visceral
the female genitalia [4]. Genital lesions are rare, affecting hemangiomas [9-14].
approximately 1% of patients with IH [5,6]. Well-localized IHs of the male genitalia may be observed.
Infantile hemangiomas, including genital lesions, have a These lesions will likely involute completely and require no
unique life cycle characterized by 3 phases. The proliferative treatment other than parental reassurance. Pharmacologic
phase is marked by rapid tumor growth. Growth plateaus intervention may be necessary for larger, ulcerated lesions to
around 1 year of age, marking the beginning of the involuting hasten involution, minimizing scarring and decreasing pain.
phase. In the final involuted phase, some patients will have Corticosteroid, delivered locally or systemically, accelerates
permanently damaged skin, scarring, or a fibrofatty residuum. regression in 80% of patients [15,16]. Propranolol is being
Infantile hemangiomas have distinctive radiographic used with increasing frequency [17]. Surgical excision of
features. Ultrasonographic findings include a discrete soft proliferating IH is generally reserved for ulceration, pain, and
tissue mass with increased arterial flow [7]. Proliferating IHs bleeding [16,18]. Removal of IH during the involuting phase
on magnetic resonance imaging (MRI) are well circum- may be considered for protuberant lesions likely to result in
scribed, enhance uniformly, and have dilated feeding and excess or damaged skin or fibrofatty residuum.
draining vessels [8].
The perineum is particularly prone to ulceration. An 3.2. Hemangioendothelioma
ulcerated IH of the male genitalia is at risk for permanent
Kaposiform lymphatic anomaly and kaposiform heman-
gioendothelioma (KHE) are more aggressive vascular
tumors. The superficial component presents as a red-purple
cutaneous plaque with surrounding ecchymosis. On MRI,
KLA and KHE demonstrate enhanced signal on T2 with ill-
defined margins, infiltrating through skin down to muscle.
Profound thrombocytopenia may be evident with large
lesions. This was observed in 1 patient in our series.
Treatment is primarily medical. Kaposiform lymphatic
anomaly and KHE can rarely be resected safely owing to
anatomical extent. Drug options include corticosteroid,
vincristine, or interferon. No treatment is uniformly effective.
Both patients with KLA exhibited tumor progression despite
treatment with angiogenic inhibitors and embolization.

3.3. Vascular malformations

The prevalence of vascular malformations is estimated at

1.2% to 1.5% [19]. They are designated according to the
abnormally developed channel and flow characteristics.
Most vascular malformations manifest during infancy and
childhood, and tend to grow commensurate with the child.
Unfortunately, many lesions enlarge during puberty and
reexpand after treatment.

3.4. Lymphatic and venous malformations

Single-channel, vessel-type, slow-flow (LMs orVMs)

anomalies comprised 67.5% of the study population.
Venous malformations typically appear as bluish, easily
Fig. 1 Scrotal infantile hemangioma. compressible masses. Thrombosis, secondary to venous
1218 A.M. Kulungowski et al.

stasis, may result in swelling and pain, symptoms commonly extend through the deep inguinal ring and may have
observed in this cohort. Both patients with erectile extensive retroperitoneal and intrapelvic components. If the
dysfunction had VMs involving the corpora cavernosa. LM is asymptomatic in these areas, dissection need not
Lymphatic malformations in the genitalia can present as extend beyond the deep inguinal ring.
discrete, ballottable masses or infiltrative, involving several
anatomical locations. Cellulitis and sepsis were observed in
3.5. Capillary malformation
17.4% with genital LM. Only 3 patients, all with slow-flow
malformations, reported depression as a major symptom of
Isolated CM was rarely noted in the male genitalia.
their genital lesion. We surmise that this low number is
Capillary malformation presents at birth as a flat, pink-red,
likely because of underreporting.
cutaneous patch. Capillary malformation was identified in
Lymphatic malformation in the groin and genitalia can
the penile skin of a patient with a more extensive lesion of
masquerade as an inguinal hernia. Seven patients with
the trunk and lower extremities. It is likely that CMs are
genital LM mistakenly underwent groin exploration. A
underrepresented in our cohort because these nonthreatening
patient with a groin LM should undergo imaging to
lesions would not commonly generate enough concern to
determine its full extent. Lymphatic malformation is usually
warrant referral to a vascular anomalies center.
intimately intertwined with spermatic cord structures.
Meticulous dissection is required to remove LM attached
to testicular vasculature and vas deferens. An inadequate 3.6. Combined slow-flow anomalies
resection may result in reexpansion of the residual LM.
Reoperation is challenging because of scarring of the cord Combined genital vascular malformations are usually
and increases the risk of testicular loss. Groin LMs often associated with soft tissue and skeletal hypertrophy.

Fig. 2 Venous malformation. (Top, left) Focal VM of glans penis. (Top, middle) Diffuse VM of scrotum, penis, and perineum.
(Top, right) Venous malformation of scrotum and perineum. (Bottom, left, middle, right) Pre-, intra-, and postoperative appearance of
surgically excised VM.
Vascular anomalies of the male genitalia 1219

Nearly all patients (25/26) with a combined genital more obvious during adolescence, as the AVM is more
malformation had associated involvement of the lower likely to expand [20]. Proximal ligation of feeding arteries is
extremity. Slow-flow combined malformations (16.2%) never indicated. This maneuver will incite the AVM to
were more common than fast-flow combined malforma- recruit nearby arteries, leading to continued progression.
tions (5.1%). Capillary-lymphatic-venous malformations The remaining 4 patients with a combined fast-flow lesion
(Klippel-Trenaunay syndrome) were the most prevalent had Parkes Weber syndrome (PWS). It is characterized by a
combined lesions (Fig. 4). Classically, the infant with confluent or patchy CM with multiple underlying micro-
CLVM has an enlarged lower extremity with lateral CMs, arteriovenous fistulae causing increased blood flow to the
lymphatic vesicles, and visible varicosities. Bleeding, affected leg in association with soft tissue and skeletal
swelling/disfigurement of the genitalia, and pain were the hypertrophy. Patients with PWS have either CM-AVM
most prevalent complaints in CLVM. Infection and bladder or capillary-lymphatic-arteriovenous malformation (Fig. 4).
outlet obstruction were also observed. Magnetic resonance Three patients with PWS had been previously mistakenly
imaging and MR venography are the most useful diagnosed with CLVM. The distinction between PWS and
modalities to demonstrate type, location, and extent of the CLVM is important. Nearly 30% of patients with PWS
vascular malformation components. develop cardiac overload owing to arteriovenous shunting
[21]. The 2 patients with CM-AVM had the genital
component of their disease managed expectantly. Capillary-
3.7. Combined fast-flow anomalies
lymphatic-arteriovenous malformation in the genitalia,
however, required compression, contour resection, and/or
Six combined fast-flow anomalies of the genitalia
sclerotherapy to treat the lymphatic component.
were found in our series. Two patients had arteriovenous
malformations (AVMs). Arteriovenous malformation is
composed of an abnormal collection of arteries and veins 3.8. Management
that directly communicate (shunts), thus bypassing the high-
resistance capillary bed. The epicenter of the AVM is called The timing of intervention for a vascular malformation of
the nidus. Arteriovenous malformation may be initially the genitalia is different than other anatomical areas. There is
misdiagnosed as a CM or IH because of pink staining in the less social pressure for contour improvement because this
overlying skin. The skin of an AVM may be warm; and in area is concealed early in life. Patients may not be aware of
time, there may be a palpable thrill. The diagnosis becomes anatomical differences until adolescence when they begin to

Fig. 3 Lymphatic malformation. (Top, left) Lymphatic malformation of scrotum. Ecchymotic appearance suggests intralesional bleeding.
(Top, middle) Lymphatic malformation of urethra viewed with rigid cystourethroscope. (Top, right) Lymphatic malformation of scrotum with
chylous leak. White-fluid–filled vesicles are indicative. (Bottom, left, middle, right) Pre-, intra-, and postoperative appearance of a resected
scrotal LM.
1220 A.M. Kulungowski et al.

Fig. 4 Combined vascular malformations. (Left) Capillary-lymphatic-venous malformation of trunk, extremity, and genitalia. (Right)
Capillary malformation–AVM of extremity with involvement of penis and scrotum.

cause distress. The average age at first intervention for our referred to our center. This caused gaps in the medical record
patients was 10.8 years, coinciding with early adolescence. If and limited follow-up information. Lastly, the true incidence
there are no functional indications during infancy, it is of male vascular anomalies may be overestimated given the
prudent to delay treatment until structures are larger. Lesions quaternary referral nature of our center.
of considerable bulk may be dealt with at least in part in Vascular anomalies of the male genitalia are rare and
infancy and childhood, delaying more definitive procedures heterogeneous in presentation. An accurate diagnosis
until anatomical maturity. allows for implementation of an appropriate treatment
Indications for treatment of vascular malformations plan. In general, tumors are observed or treated pharma-
include bleeding, infection, fluid leakage, dysfunction, and cologically. Malformations are managed by sclerotherapy,
cosmetic concerns. Slow-flow vascular malformations are embolization, and/or surgical excision. Interdisciplinary
managed by a combination of sclerotherapy and/or resection. care for these disturbing lesions improves outcomes and
Embolization and surgical reduction are used for fast-flow minimizes morbidity.
lesions. Compression garments are difficult to use but can be
of some benefit. Sclerotherapy is used to treat macrocystic
lymphatic and venous malformations. Multiple sessions may Acknowledgments
be required. The only potential curative procedure for
malformations is extirpation (Figs. 2 and 3). Small, localized Dr. Kulungowski is supported by the Stuart and Jane
lesions of the genitalia may be totally resected; large Weitzman Fellowship in Vascular Anomalies.
malformations often require serial excision. Unfortunately,
as with sclerotherapy, many malformations “recur” because
of growth or recanalization of remaining abnormal vascular References
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