This document discusses various types of vascular anomalies. It begins by providing historical context for how vascular anomalies were classified. It then summarizes the current biologic classification system introduced in 1982, which distinguishes between vascular tumors and malformations. For vascular tumors, it describes infantile hemangioma and its life cycle phases. It also discusses other types of vascular tumors like congenital hemangiomas and kaposiform hemangioendothelioma. For vascular malformations, it lists the main types classified by predominant vessel type. Diagnosis and management approaches are summarized for different vascular anomalies.

1. BY:DR.AMIT KR.CHOUDHARY
RIMS HOSPITAL,IMPHAL
Vascular anomalies

2. Introduction
• Vascular anomalies is a newly evolved
field that incorporates several surgical and
medical specialties.
• For centuries, it was believed that vascular
birthmarks were imprinted on the unborn
child by a mother’s emotions or diet. This
was reflected in words for brightly colored
foods to describe vascular anomalies.
Adjectives such as “cherry,” “strawberry,”
and “port-wine” have their roots in these
traditional beliefs.
• Physicians usually preferred the Latin term
naevus maternus for vascular birthmarks

3. • In the 19th century, the first attempt was made to
categorize vascular anomalies histologically by Virchow,
the father of cellular pathology.
• Virchow’s angioma simplex became synonymous with
“capillary” or “strawberry” hemangioma. His term
angioma cavernosum was used indiscriminately for
subcutaneous hemangiomas (that regress) and venous
malformations (that never regress).
• Angioma racemosum was modified to racemose (cirsoid)
aneurysm or “arteriovenous hemangioma”, referring to an
arteriovenous malformation, a vascular lesion that
expands over time.
• Wegener, developed a comparable histomorphic
subcategorization for “lymphangioma
• This confusing nosology has been responsible for
improper diagnosis, illogical treatment, and misdirected
research.

4. • A biologic classification system, introduced in 1982,cleared
the terminologic confusion that had long obscured the field.
This scheme evolved from studies that correlated physical
findings, natural history, and cellular features.
• The key to this biologic classification is proper use of the
Greek nominative suffix -oma which once meant “swelling” or
“tumor”. In modern times -oma denotes a lesion that arises by
upregulated cellular growth.

6. • Biologic classification was accepted by the International Society for
Vascular Anomalies in 1996.
• Differences that distinguish between hemangiomas and vascular
malformations were confirmed by imaging and by immunohistochemical
markers.
• vascular malformations, although fundamentally structural disorders, can
exhibit endothelial hyperplasia, possibly triggered by clotting, ischemia,
embolization, partial resection, or hormonal influences.
• History and physical examination should give diagnostic accuracy of more
than 90% in distinguishing between vascular tumors and vascular
malformations
• The most likely error in assigning a clinical diagnosis continues to be an
inaccurate, imprecise use of terminology , Perhaps the most egregious
example is “hemangioma”, so often applied generically and
indiscriminately to vascular lesions that are entirely different in histology
and behavior.
• There is no such entity as “cavernous hemangioma”. The lesion is either a
deep infantile hemangioma or a venous malformation.

7. Vascular tumors
• Vascular tumors are endothelial
neoplasms characterized by increased
endothelial turnover.
• Infantile hemangioma is the most
common, a tumor that arises in infants.
• Other vascular tumors are
congenital hemangioma,
hemangioendotheliomas,
tufted angioma,
hemangiopericytomas,
angiosarcoma,
pyogenic granuloma.

8. Vascular malformations
• Vascular malformations are the
result of abnormal development
of vascular elements during
embryogenesis .
They are designated according to
the predominant channel type as:
 capillary malformation,
 lymphatic malformation,
 venous malformation,
 arteriovenous malformation, and
 complex forms such as capillary-
lymphatic-venous malformation.

11. Vascular tumors

12. Infantile hemangioma
Pathogenesis
Infantile hemangioma
(IH) is a benign
endothelial tumor
with a biologic
behavior that is
unique because it
grows rapidly,
slowly regresses,
and never recurs.

13. There are three stages in its life cycle:
 The proliferating phase (0–1 year of age)
 The involuting phase (1–4 years of age)
 The involuted phase (after 4 years of age).

14.  During the proliferating phase, the histopathologic
examination shows clusters of plump endothelial cells with
small vascular channels and minimal connective tissue.
 During involution, mature blood vessels are formed. Vascular
channels enlarge and are lined by flattened endothelial cells.
Increased extracellular matrix, multi-laminated basement
membranes, and pericytes are deposited around the vessels.
 After involution, the majority of the IH is replaced with
adipocytes andconnective tissue. All that remains are thin-
walled vessels with multi-laminated basement membranes and
larger feeding and draining vessels

15. Clinical features
 4–5% of Caucasian infants.
 more frequent in premature children and in females (4 : 1).
 The tumor is typically single (80%) and involves the head and
neck (60%), trunk (25%), or extremity (15%).
 The median age of appearance is 2 weeks.
 First 9 months of age IH grows faster than the child
(proliferating phase); IH is red when it involves the superficial
dermis.
 By age 9–12 months, growth of IH reaches a plateau.
 After 12 months, the tumor begins to regress (involuting
phase); the color fades and the lesion flattens. Involution
ceases most of children by age 4 years (involuted phase).

16. Head and neck hemangiomas
 Ulcerated lesions may destroy the eyelid, ear, nose
or lip.
 IH of the scalp or eyebrow can result in alopecia.
 Periorbital hemangioma can block the visual axis
or distort the cornea causing amblyopia.
 Subglottic hemangioma may obstruct the airway.
Multiple hemangiomas
 Approximately 20% of infants have more than one
IH.
 The term hemangiomatosis designates five or more
small (<5 mm) tumors. These children are more
likely to have IH of internal organs.
 The liver is most commonly affected.

17. Hepatic hemangiomas
• The liver is the most common extracutaneous site for IH.
• There are three subtypes of hepatic hemangioma: focal, multifocal,
or diffuse.
• Most hepatic IHs are nonproblematic and large tumors can cause
heart failure, hepatomegaly, anemia, or hypothyroidism.
• Focal hepatic hemangioma is usually asymptomatic and not
associated with cutaneous lesions.

18. Hemangiomas and structural anomalies
• PHACE association affects 2.3% of patients with IH, and
consists of a plaque-like IH in a regional distribution of
the face with at least one of the following anomalies:
 Posterior fossa brain malformation;
 Hemangioma;
 Arterial cerebrovascular anomalies;
 Coarctation of the aorta and cardiac defects;
 Eye/Endocrine abnormalities.
• When ventral developmental defects (Sternal clefting or
Supraumbilical raphe) are present, an “S” is added
(PHACES).

19. Diagnosis
• History and physical examination.
• Hand-held Doppler- Fast-flow is
confirmed by using this device.
• Ultrasonography, IH appears as a soft-
tissue mass with fast-flow, decreased
arterial resistance, and increased venous
drainage.
• MRI, the tumor is isointense on T1,
hyperintense on T2, and enhances during
the proliferating phase. Involuting IH
exhibits increased lobularity and adipose
tissue; the number of vessels and flow is
reduced.
• Biopsy is indicated if malignancy is
suspected
• If biopsy is needed, positive erythrocyte-
type glucose transporter (GLUT 1)
immunostaining differentiates IH from
other vascular tumors and malformations.
Tumors or fast-flow lesions
that may be confused with IH
include:
arteriovenous malformation,
congenital hemangiomas, cutaneous
leukemia (chloroma),
hemangioendotheliomas,
infantile fibrosarcoma,
infantile myofibromatosis,
lymphoma,
metastatic neuroblastoma,
PTEN-associated vascular anomaly,
and
pyogenic granuloma

20. Management

21. Nonoperative management
Observation
• 90% IH are small, localized, and do not involve anatomically
important areas.
• Monthly basis, during the proliferative phase if a lesion has the
potential to cause obstruction, destruction, or ulceration
requiring intervention.
• Annually during the involuting phase if it is possible surgical
intervention may be necessary in childhood for excess skin,
residual fibrofatty tissue, or reconstruction of damaged
structures.

22. Wound care
• Superficial IH is prone to ulceration because the skin is
damaged by the tumor. In addition, arteriovenous shunting
reduces oxygen delivery to the skin, causing ischemia.
• IH should be kept moist with hydrated petroleum during the
proliferative phase.
• Anogenital area may be further protected by using a
petroleum gauze.
• If ulceration develops, application of topical antibiotic
ointment and petroleum gauze barrier.
• Large, deep ulcers require damp-to-dry dressing changes.
• EMLA (eutectic mixture of local anesthetics) contains
prilocaine should not be used in infants less than three months
of age because of the risk of methemoglobinemia.

23. Topical corticosteroid
• Adverse effects include hypopigmentation, cutaneous atrophy,
and even adrenal suppression.
Intralesional corticosteroid
• Small, well-localized IHs that obstruct the visual axis or nasal
airway, or those at risk for damaging important structures (i.e.,
eyelid, lip, nose) are best managed by intralesional
corticosteroid .
• Triamcinolone (3 mg/kg) stabilizes the growth of the lesion.

24. Systemic pharmacotherapy
• Oral prednisolone or propranolol - Problematic IH that is
larger than 3–4 cm in diameter is managed by.
• Interferon - Not recommended in children less than 12
months of age because it can cause neurologic sequela,
particularly spastic diplegia.
• Vincristine - as a second-line option.
• prednisolone 3 mg/ kg/day for one month; then tapered by 0.5
cc every 2-4 weeks until it is discontinued between 10-12
months of age when the tumor is no longer proliferating.

26. Embolic therapy
• Large IH, usually multifocal hepatic lesions.
• Cardiac failure often recurs even after initial
improvement, and drug therapy should be continued
after embolization until the child is approximately 10–
12 months of age when natural involution begins.
Laser therapy
• pulsed-dye laser treatment
• The laser penetrates only 0.75– 1.2 mm into the dermis,
and thus only affects the superficial portion of the
tumor.
• Risk of ulceration, pain, bleeding, and scarring.
• pulsed-dye laser is indicated during the involuted phase
to fade residual telangiectasias.

27. Operative management
Proliferative phase (infancy)
• Resection of IH generally is not recommended during the
early growth phase. The tumor is highly vascular during this
period and there is a risk for blood loss, iatrogenic injury,
and an inferior outcome, compared to excising residual
tissue after the tumor has regressed.
Indications for operative intervention during this phase:
 failure or contraindication to pharmacotherapy;
 well-localized tumor in an anatomically favorable area;
 If resection will be necessary in the future and the scar
would be the same , Circular lesions located in visible
areas, particularly the face, are best removed by circular
excision and purse-string closure.

28. Involuting phase (early childhood)
• Resection during involution is much safer .
• Staged or total excision should be considered during this
period, rather than waiting for complete involution if:
 (1) it is clear that the lesion will require resection (e.g., post-
ulceration scarring, destroyed structures, expanded skin,
significant fibrofatty residuum);
 (2) the length of the scar would be similar if the procedure was
postponed to the involuted phase;
 (3) the scar is in a favorable location.

30. Involuted phase (late childhood)
• Waiting until IH has fully involuted prior to removal ensures
that the least amount of fibrofatty residuum and excess skin is
resected, resulting in the smallest possible scar.
• Allowing for full involution is recommended for lesions when
it is unclear if a surgical scar would leave a worse deformity
than the appearance of the residual hemangioma

32. CONGENITAL
HEMANGIOMAS

33. Clinical features
• There are rare hemangiomas that arise in the fetus.
• Fully-grown at birth, and do not have postnatal growth.
• Red violaceous with coarse telangiectasias, central pallor, and a peripheral pale
halo.
• More common in the extremities, have an equal sex distribution,
• Solitary with an average diameter of 5 cm.
• There are two forms:
 Rapidly involuting congenital hemangioma (RICH) and
 Noninvoluting congenital hemangioma (NICH).

34.  RICH involutes rapidly after birth and 50% of lesions have
completed regression by 7 months of age; the remaining tumors are
fully involuted by 14 months.
 RICH affects the head or neck (42%), limbs (52%) or trunk (6%).
 RICH does not leave behind a significant adipose component, unlike
common IH.
 NICH, in contrast, does not regress; it remains unchanged with
persistent fast-flow.It involves the head or neck (43%), limbs (38%),
or trunk (19%).

35. Management
• RICH - usually does not require resection in infancy because
it regresses so quickly.
• congestive heart failure, and this is controlled by corticosteroid
or embolization as the lesion involutes.
• RICH may leave behind atrophic skin and subcutaneous tissue.
• Reconstruction with autologous grafts (fat, dermis) or acellular
dermis may be indicated.
• NICH is rarely problematic in infancy; it is observed until the
diagnosis is clear. Resection of NICH may be indicated to
improve the appearance of the affected area, as long as the
surgical scar will be less noticeable than the lesion.

36. KAPOSIFORM
HEMANGIOENDOTHELIOMA

37. Clinical features
• Kaposiform hemangioendothelioma (KHE) is a rare vascular
neoplasm that is locally aggressive, but does not metastasize.
• Although one-half of lesions are present at birth, KHE may
develop during infancy (58%), between age 1–10 years (32%),
or after 11 yearsof age (10%);adult-onset is rare.

38. • KHE has an equal sex distribution, is solitary, and affects the
head/neck (40%), trunk (30%), or an extremity (30%).
• The tumor is often >5 cm in diameter and appears as a flat,
reddish purple, edematous .
• Over half the patients have Kasabach–Merritt phenomenon
(KMP) (thrombocytopenia <25 000/mm3, petechiae,
bleeding).

39. DIAGNOSIS
• History, physical examination, and imaging.
• MRI is indicated for diagnostic confirmation and to asses the
extent of the tumor.
• Histologically, KHE has infiltrating sheets or nodules of
endothelial cells lining capillaries.
• Hemosiderin-filled slitlike vascular spaces with red blood cell
fragments, as well as dilated lymphatics, are present.

40. Management
• Patients with KMP require systemic treatment to prevent life
threatening complications.
• Large, asymptomatic tumors without KMP are also managed
with pharmacotherapy to minimize fibrosis and subsequent
long-term pain and stiffness.
• Vincristine is first-line therapy, the response rate is 90%.
• interferon (50%) or corticosteroid (10%) are second line
drugs.

41. Pyogenic granuloma
• Pyogenic granuloma (PG) is neither “pyogenic” nor
“granulomatous”. Some pathologists call it lobular capillary
hemangioma.
• PG is a solitary, red papule that grows rapidly on a stalk. It is
small, with an average diameter of 6.5 mm; the mean age of
onset is 6.7 years.
• The male to female ratio is 2 : 1.
• PG is commonly complicated by bleeding (64%) and
ulceration (36%).

42. • PG primarily involves the skin (88%), but can also involve
mucous membranes (11%).
• It is distributed on the head or neck (62%), trunk (19%), upper
extremity (13%), or lower extremity (5%).
• PG rarely spontaneously heals.
• PGs require intervention to control likely ulceration and bleeding.
• Curettage, shave excision, laser therapy, and excision.
• Full-thickness excision is more definitive treatment.

43. Vascular
malformations

44. Capillary malformation
Pathogenesis
• Capillary malformation (CM) is the
modern term for the antiquated “port-
wine” stain.
• The 19th century “neurovegetative
theory” asserted that the primary
embryonic defect occurs in the
developing autonomic nervous system.
• Regional or dermatomal (particularly
with branches of the trigeminal nerve),
suggesting a relationship to the
developing peripheral nervous system.

45. • The cutaneous flush of a CM
may, in part, be due to an
inability of these vessels to
constrict secondary to
diminished sympathetic
innervation.
• The occasional finding of
hyperhidrosis in an area of
CM supports such an
association.

46. Clinical features
• CMs occur anywhere on the body; they can
be localized or extensive. Rarely, they are
multiple and generalized, such as in
Sturge–Weber syndrome.
• CM should not be confused with a nevus
flammeus neonatorum, the most common
vascular birthmark, seen in 50% of white
neonates. These macular stains are
popularly referred to as “angel kiss” on the
forehead, eyelids, nose, and upper lip or
“stork bite” in the nuchal area.
• These predictably fade by 2 years of age,
representing a minor transient dilatation of
dermal vessels. If they persist, such a
birthmark must be relabeled CM.

47. • Equal gender distribution;
• The birth prevalence is 0.3%.
• The cutaneous discoloration is usually, but not always, evident at
birth because the stain may be hidden by the erythema of neonatal
skin.
• sometimes with raised fibrovascular cobblestoning.
• Facial CMs often occur in a dermatomal distribution; 45% are
restricted to one of the three trigeminal dermatomes.
• Pyogenic granuloma may develop in CM, causing ulceration and
bleeding. CM also can lead to soft-tissue and skeletal overgrowth
below the stain.
• When located on the face, hypertrophy of the lip, cheek, or
forehead can occur; the lip is most commonly affected.
• Enlargement of the maxilla or mandible can result in an occlusal
cant (vertical maxillary overgrowth) with increased dental show
and malocclusion.

48. • Increased circumference and limb length discrepancy.
• A capillary stain on the posterior thorax can signify an
underlying arteriovenous malformation of the spinal cord
(Cobb syndrome).
• A CM over the cervical or lumbosacral spine is a red flag for
occult spinal dysraphism, lipomeningocele, tethered spinal
cord, and diastematomyelia.

49. Management
Pulse-dye laser therapy
• Facial CM is best treated with pulse-dye laser early in
childhood, before memory or self-awareness begins.
• Intervention in infancy may achieve superior lightening of the
lesion, as well as reduce the risk of subsequent darkening and
hypertrophy, compared with photocoagulation in later
childhood.
• Multiple treatments, spaced 6 weeks apart, are often required
until the CM fails to improve with additional treatments.

50. • Adulthood Cutaneous fibrovascular hypertrophy occurs over
many years, requiring intervention in adulthood.
• Malocclusion can be corrected in adolescence with
orthodontic manipulation,orthognathic procedure,Le Fort I
osteotomy or bimaxillary procedure.
• Facial asymmetry caused by overgrowth of the zygoma,
maxilla, or mandible can be improved by contour burring.
• Trunk or extremity soft tissue overgrowth can be associated
with increased subcutaneous adipose tissue.
• Suction-assisted lipectomy.
• Severe cutaneous thickening and cobblestoning can be
resected and reconstructed by linear closure, skin grafts, or
local flaps.

51. CUTIS MARMORATA TELANGIECTASIA CONGENITA
• Cutis marmorata telangiectasia congenita (CMTC) manifests as congenital
cutaneous marbling, even at normal temperatures, that becomes more
pronounced with lower temperatures or with crying.
• The involved skin is depressed in a serpiginous reticulated pattern and has a
deep purple color.

52. • CMTC occurs sporadically in an equal gender distribution.
• CMTC can cause ulceration and may be localized, segmental, or
generalized.
• It most frequently involves the trunk and extremities; it is typically
unilateral (65%) and involves a lower extremity (69%).
• The affected extremity is often hypoplastic.
• Atrophy, pigmentation, and ectasia of the superficial veins often
persist into adulthood.
• CMTC may be associated with hypoplasia of the iliac and femoral
veins.

53. Lymphatic
malformation (LM)

54. Pathogenesis
• The lymphatic system develops during the 6th week of
embryonic life.
• Paired jugular lymph sacs appear, followed by mesenteric,
cisterna chyli, and posterior lymph sacs. These enlarge and
become connected to the thoracic duct.
• A second stage of maturation involves the transformation of
the sacs into primary lymph nodes and the centrifugal spread
of peripheral lymphatics.
• One etiologic theory for LMs is that their sprouting lymphatic
channels become “pinched off” from the main lymphatic
system, leading to aberrant collections of lymphatic fluid-filled
spaces.
• Another theory attributes LMs to abnormal budding of the
lymphatic system with a loss of connection to the central
lymph channels or to development of lymphatic tissue in
aberrant locations.

55. Clinical features
• LM is characterized by the size of the
malformed channels: microcystic,
macrocystic, or combined.
• Macrocystic lesions are defined as
cysts large enough to be punctured
by a needle and treated by
sclerotherapy.
• LM is usually noted at birth or within
the first 2 years of life.
• Prenatal ultrasonography can detect
relatively large lesions as early as the
2nd trimester.
• True LMs seen antenatally must be
differentiated from “posterior nuchal
translucency” or “cystic hygroma”.

56. • Most common locationis head and neck;
other common sites are the axilla, chest,
and perineum.
• Lesions are soft and compressible. The
overlying skin may be normal, have a
bluish hue, or be studded with pink-red
vesicles.
Most common complications are bleeding
and infection.
 Intralesional bleeding occurs in up to
35% of lesions causing ecchymotic
discoloration, pain, or swelling.
Infection complicates as many as 70% of
lesions and can progress rapidly to sepsis.

57. • Oral lesions may lead to macroglossia
• Two-thirds of infants with cervicofacial LM require
tracheostomy

58. • Bony overgrowth is another
complication; the mandible is most
commonly involved resulting in an
open bite and prognathism.
• Thoracic or abdominal LM may lead
to pleural, pericardial, or peritoneal
chylous effusions.
• Periorbital LM causes a permanent
reduction in vision (40%), and 7%
of patients become blind in the
affected eye.

59. • Generalized LM presents with multifocal or osteolytic
bony lesions, splenic involvement, as well as pleural
and/or pericardial effusions.
• Other terms for the generalized skeletal presentation
include Gorham–Stout syndrome, disappearing bone
disease, and phantom bone disease

60. DIAGNOSIS
• Large or deep LMs are assessed by MRI to:
(1) confirm the diagnosis;
(2) Define the extent of the malformation;
(3) plan treatment.
• LM appears as either a macrocystic, microcystic or
combined lesion with septations of variable thickness.
• LM shows abnormally walled vascular spaces with
eosinophilic, protein-rich fluid, and collections of
lymphocytes.
• Immunostaining with the lymphatic markers D2–40 and
LYVE-1 are positive.

61. Management
• LM is a benign lesion; intervention is not mandatory.
• Small or asymptomatic lesions may be observed.
• An infected LM often cannot be controlled with oral antibiotics
and intravenous antimicrobial therapy
• Intervention for LM is reserved for symptomatic lesions that cause
pain, significant deformity, or threaten vital structures.

62. Sclerotherapy
• Sclerotherapy is first-line management for large or
problematic macrocystic/combined LM .
• Sclerosants : doxycycline, sodium tetradecyl sulfate (STS),
ethanol, bleomycin, and OK-432.
• Doxycycline is 1st choice because it is effective (83%
reduction in size) and safe (<5% risk of skin ulceration).
• STS is second-line agent.
• Ethanol is an effective sclerosant but has the highest
complication rate.
• Ethanol can injure nerves, and thus should not be used in
proximity to important structures.
• OK-432 is limited because it is not widely available.

63. Complication of sclerotherapy
• Cutaneous ulceration (<5%).
• Ethanol : CNS depression, pulmonary hypertension,
hemolysis, thromboembolism, and arrhythmias.
• Extravasation of the sclerosant into muscle can cause atrophy
and contracture.
• LM often re-expands over time.

64. Resection
• Significant morbidity: major blood loss, iatrogenic injury, and
deformity.
• For example, resection of cervicofacial LM can injure the facial
nerve (76%) or hypoglossal nerve (24%).
• Excision is usually subtotal because LM involves multiple tissue
planes and important structures;
• recurrence is common (35–64%).
• Resection is reserved for:
• (1) symptomatic microcystic LM causing bleeding, infection,
distortion of vital structures, or significant deformity;
(2) symptomatic macrocystic/ combined LM that no longer can be
managed with sclerotherapy because all macrocysts have been
treated;
(3) small, well-localized LM (microcystic or macrocystic) that may
be completely excised.

65. VENOUS
MALFORMATION

66. Pathogenesis
• Venous malformation (VM) results
from an error in vascular
morphogenesis. Lesions are composed
of thin walled, dilated, sponge-like
channels of variable size and mural
thickness.
• There is a normal-appearing
endothelial lining; it is the smooth
muscle architecture that is
abnormal. Smooth muscle alpha-actin
staining demonstrates decreased
smooth muscle cells that are arranged
in clumps rather than concentrically.
• This mural abnormality probably
accounts for the tendency of these
malformations to gradually expand
over time.

67. • Glomuvenous malformation
(GVM) is the most common
type.
• GVM is an autosomal
dominant condition with
abnormal smooth muscle-like
glomus cells along the ectatic
veins. It is caused by a loss-of-
function mutation in the
glomulin gene.
• Cutaneomucosal-venous
malformation (CMVM) is
rare. CMVM is an autosomal
dominant condition caused by
a gain-of-function mutation in
the TIE2 receptor.

68. Clinical features
• VMs are blue, soft, and compressible; calcified phleboliths
often can be palpated. VM range from small, localized
cutaneous lesions to diffuse malformations involving multiple
tissue planes, vital structures, and internal organs.
• VM is typically sporadic and solitary in 90% of
patients.Sporadic VM is usually greater than 5 cm.
• GVMs are typically multiple (70%), small (two-thirds <5 cm),
and located in the skin and subcutaneous tissue; Lesions are
more painful than typical VM.
• Almost all lesions involve the skin, mucosa, or subcutaneous
tissue; 50% also affect deeper structures.

69. • CMVM (Cutaneomucosal-venous malformation) are
multifocal mucocutaneous lesions; they are less common than
GVM.
• Lesions are small (76% <5 cm), multiple (73%), and located
on the head/neck (typically tongue or buccal mucosa) .

70. Blue rubber bleb nevus syndrome (BRBNS)
• Blue rubber bleb nevus syndrome
(BRBNS) is a rare condition
characterized by multiple, small (<2
cm) VMs involving the skin, soft
tissue, and gastrointestinal tract.
• Morbidity is associated with
gastrointestinal bleeding requiring
chronic blood transfusions.
• Diffuse phlebectasia of
Bockenheimer is an old eponym to
specify an extensive extremity VM
involving skin, subcutaneous tissue,
muscle, and bone.
• Verrucous hemangioma (VH) is a
low-flow vascular malformation
that is clinically similar to a
hyperkeratotic VM (“verrucous
VM).

71. • Maffucci Syndrome denotes the
coexistence of cutaneous venous
malformations with bony exostoses
and enchondromas.Osseous lesions
appear first, most often in the hands,
feet, long bones of the extremity,
ribs, pelvis, and cranium. Recurrent
fractures are common.

72. Complications of venous malformation
• pain, swelling, and psychosocial issues.
• Head and neck VM - mucosal bleeding or progressive
distortion leading to airway or orbital compromise.
• Extremity VM can Leg-length discrepancy, hypoplasia due to
disuse atrophy, pathologic fracture, hemarthrosis, and
degenerative arthritis.
• Thrombosis and pulmonary embolism.
• Gastrointestinal VM - bleeding and chronic anemia.
• localized intravascular coagulopathy (LIC) and painful
phlebothromboses.

73. Management
• Custom-fitted compression garments to reduce blood
stagnation and minimize expansion, phlebolith formation, and
pain.
• Prophylactic daily aspirin (81 mg) to prevent thrombosis.
• Low molecular weight heparin (LMWH) is considered for
patients with significant LIC who are at risk for DIC.
• Long-term anticoagulation or a vena caval filter.

74. Sclerotherapy
• First-line treatment is sclerotherapy, which is safer and more
effective than resection.
• Sclerotherapy is repeated until symptoms are alleviated or when
injectable vascular spaces are no longer present.
• VM usually re-expands after sclerotherapy.
• The preferred sclerosants for VM are sodium tetradecyl sulfate
(STS) and ethanol; STS is the most commonly used. Although
ethanol is more effective than STS, it has a higher complication rate

75. Resection
Resection is rarely primary treatment because:
(1) the entire lesion is difficult to remove;
(2) the risk of recurrence is high because hidden channels
(3) the risk of blood loss and iatrogenic injury
Resection should be considered for:
(1) small well-localized lesions that can be completely
removed,
(2) persistent mass or deformity after completion of
sclerotherapy

76. ARTERIOVENOUS
MALFORMATION

77. Pathogenesis
• Arteriovenous malformation (AVM) is believed to result from
an error of vascular development between the 4th and 6th
weeks of gestation.
• Halsted wrote that it results from failure of arteriovenous
channels in the primitive retiform plexus to regress.
• This may explain why AVM is 20 times more common in the
central nervous system, where apoptosis is rare.
• An absent capillary bed causes shunting of blood directly
from the arterio-venous circulation, through a fistula or nidus
(abnormal channels bridging the feeding artery to the draining
veins).

78. • Capillary malformation-arteriovenous malformation (CM-
AVM) is caused by a mutation in RASA1.
• AVM may enlarge because of increased blood flow causing
collateralization, dilatation of vessels (especially venous
ectasia), and thickening of adjacent arteries and veins.
• Latent arteriovenous shunts may open, stimulating
hypertrophy of surrounding vessels from increased pressure.
• Angiogenesis (growth of new blood vessels from pre-existing
vasculature) and vasculogenesis (de novo formation of new
vasculature) also may be involved in AVM expansion.

79. • Neovascularization may be a primary stimulus for AVM
growth, it also could be a secondary event. For example,
ischemia, a potent stimulator of angiogenesis, causes
enlargement of AVM after proximal arterial ligation or trauma.
• Increased blood flow due to arteriovenous shunting may
promote angiogenesis; vascular endothelial growth factor
(VEGF) production and endothelial proliferation are
stimulated by increased blood flow.
• Both males and females have a two-fold risk of progression in
adolescence; increased circulating hormones during this period
may promote AVM expansion.

80. Clinical features
• The most common site of extracranial AVM is the head and
neck, followed by the limbs, trunk, and viscera.
• Although present at birth, AVM may not become evident until
childhood.
• Early lesions present as a pink-red cutaneous stain, without a
palpable thrill or bruit.
• Pain, ulceration, and bleeding.
• Disfigurement, destruction of tissues, and obstruction of vital
structures.
• High pressure shunting of blood may lead to venous
hemorrhage.
• Arterial bleeding
• Cardiac enlargement and result in high-output.

82. Diagnosis
• History and physical examination.
• Hand-held Doppler reveals fast-flow and excludes a slow-
flow vascular anomaly.
• US with color Doppler examination.
• MRI also is necessary to: (1) confirm the diagnosis; (2)
determine the extent of the lesion; (3) plan treatment.
• Angiography - prior to embolization or when resection is
planned.
• CT may be indicated if the AVM involves bone.

83. Management
• Because AVM is often diffuse, involving multiple tissue planes
and important structures, cure is rare. The goal of treatment
usually is to control the malformation.
• Intervention is focused on alleviating symptoms (i.e., bleeding,
pain, ulceration), preserving vital functions (i.e., vision,
mastication), and improving deformity.
• Management options include embolization, resection, or a
combination.
• Resection offers the best chance for long-term control, but the
re-expansion rate is high.
• Almost all AVMs will re-expand after embolization.
• Embolization is used to reduce blood loss during resection or
sometimes for palliation of unresectable lesions.

84. • Intervention is determined by:
(1) the size and location of the AVM;
(2) the age of the patient;
(3) Schobinger stage.
• Large, asymptomatic AVM located in an anatomically
sensitive area is best observed; especially in a young child who
is not psychologically ready for major resection and
reconstruction.

85. Embolization
• Embolization is the delivery of an inert substance, through a
catheter into the AVM nidus to occlude blood flow and/or
fill a vascular space.
• Embolization is used either as a preoperative adjunct to
resection or as monotherapy for lesions not amenable to
extirpation.
• Stage I AVM has a lower recurrence rate than higher-staged
lesions.
• Most recurrences occur within the first year after
embolization, and 98% re-expand within 5 years.
• Preoperative embolization also reduces blood loss during
extirpation, but not the extent of resection.
• Substances used for embolization are either liquid (n-butyl
cyanoacrylate (n-BCA), Onyx) or solid (polyvinyl alcohol
particles (PVA), coils).

86. Resection
• Resection of AVM has a lower recurrence rate than
embolization alone; it is considered for a well-localized lesion
or to correct deformity (i.e., bleeding or ulcerated areas, labial
hypertrophy).
• Wide extirpation and reconstruction of large, diffuse AVM
should be exercised with caution because:
(1) cure is rare and the recurrence rate is high;
(2) the resulting deformity is often worse than the appearance
of the malformation;
(3) resection is associated with significant blood loss,
iatrogenic injury, and morbidity.
• Multiple embolizations, spaced 6 weeks apart, may be required
prior to resection. Excision should be done 24–72 h after
embolization, before recanalization restores blood flow to the
lesion.

87. Capillary malformation-arteriovenous
malformation
• Capillary malformation-arteriovenous malformation (CM-
AVM) is an autosomal dominant condition caused by a loss-of-
function mutation in the RASA1 gene.
• The prevalence is 1 in 100 000 Caucasians.
• Patients have atypical capillary malformations (CMs) that are
small, multifocal, round, pinkish-red, and often surrounded by
a pale halo.

88. Eponymous vascular anomalies with
overgrowth

89. Sturge–Weber syndrome
• Sturge–Weber syndrome (SWS) is a sporadic neurocutaneous
disorder estimated to occur in 1 in 50 000 live births.
• The three cardinal features are
Capillary malformation (CM) in the upper trigeminal neural
distribution,
ocular abnormalities (glaucoma, choroidal vascular anomalies),
leptomeningeal vascular malformation.
• Patients also commonly have soft tissue and/or bony
overgrowth (60–83%); the frequency is similar to that for
glaucoma (65–77%) and for neurological sequelae (87–93%).

90. • Patients with an upper facial CM, a diagnosis of Sturge–Weber
syndrome should be considered on initial presentation.
• The capillary stain can be in the ophthalmic (V1), extend into
the maxillary (V2), or involve all three trigeminal dermatomes.
• Patients with maxillary or mandibular involvement alone are at
low risk for SWS.
• The leptomeningeal anomalies can be capillary, venous, or
arteriovenous malformations.
• Small foci may be silent, but extensive pial vascular lesions
can cause refractory seizures, contralateral hemiplegia, and
delayed motor and cognitive development.

91. Klippel–Trénaunay syndrome
• Klippel–Trénaunay syndrome (KTS) denotes a slow flow, capillary-
lymphatic-venous malformation (CLVM) of an extremity in
association with soft tissue and/or skeletal overgrowth .
• It is often incorrectly called “Klippel–Trénaunay–Weber”, invoking
Parkes Weber syndrome, a fast-flow vascular malformation.
• Slightly enlarged extremity with a capillary stain to a grotesquely
enlarged limb with malformed digits.
• Affects the lower extremity in 95% of patients, the upper extremity in
5% of patients, and least commonly the trunk.
• Sometimes the contralateral foot or hand is enlarged, often with a
macrodactylous component and frequently in the absence of a
capillary stain.
• In 10% of patients with KTS, the involved limb is hypoplastic.
• Pelvic involvement is common with CLVM of the lower extremity.
• The venous component of CLVM manifests as abnormal drainage of

92. Parkes Weber syndrome
• Parkes Weber syndrome (PWS) is a diffuse AVM in an overgrown
extremity with an overlying CM .
• PWS involves the lower extremity approximately twice as often as
the upper extremity; patients have microshunting in muscle.
• The malformation is evident at birth with symmetric enlargement
and pink staining of the involved limb.
• The cutaneous stain tends to be confluent rather than patchy and is
typically warmer than a banal capillary malformation.
• The diagnosis is confirmed by the detection of a bruit or thrill.
• MRI is obtained to evaluate the extent of the malformation.
• Overgrowth in an affected extremity is subcutaneous, muscular, and
bony with diffuse microfistulas.
• The enlarged limb muscles and bones exhibit an abnormal signal
and enhancement.
• Angiography demonstrates discrete arteriovenous shunts.

93. PTEN hamartoma-tumor syndrome (Bannayan–
Riley–Ruvalcaba syndrome)
• Patients with PTEN mutations, a tumor suppressor gene,
have PTEN hamartoma-tumor syndrome (PHTS).
• This autosomal dominant condition is also referred to as
Cowden syndrome or Bannayan–Riley– Ruvalcaba
syndrome.
• Males and females are equally affected, and approximately
one-half (54%) of patients have a unique fast-flow vascular
anomaly with arteriovenous shunting, referred to as a
PTEN-associated vascular anomaly.
• Patients may have multiple lesions (57%), and 85% are
intramuscular.
• PHTS is associated with mental retardation/autism (19%),
thyroid lesions (31%), or gastrointestinal polyps (30%).
• Biopsy may aid the diagnosis of a PTEN fast-flow lesion

94. CLOVES syndrome
• Congenital Lipomatosis Overgrowth, Vascular
malformations, Epidermal nevi, and Scoliosis (CLOVES)
represents a newly described overgrowth syndrome.
• Many of these patients previously were thought to
have “Proteus syndrome”.
• Unlike Proteus syndrome, patients with CLOVES do not
have skeletal involvement and the soft-tissue
component is not progressive.
• All patients have a truncal lipomatous mass, a slowflow
vascular malformation (most commonly a CM overlying
the lipomatous mass), and hand/foot anomalies
(increased width, macrodactyly, first web-space sandal
gap).
• Patients also may have AVM (28%), neurological
impairment (50%), or scoliosis (33%).
• Treatment for the lipomatous lesions is resection, but
the recurrence rate is high.