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Copyright 2004, Vascular Birthmarks Foundation. This is for informational
purposes only and is not intended to replace a diagnosis or treatment
by a qualified physician. The VBF Europe and Vascular Birthmarks Foundation
are not responsible for the content or accuracy of any information, advice,
or links on the site.
Babies With Birthmarks
Guidelines for Specialty Referral for Infants with Vascular Birthmarks
By Linda-Rozell Shannon - Vascular Birthmarks Foundation - August 2004
- www.birthmark.org
Mission Statement: The Babies With Birthmarks program
is an international education outreach directed toward primary pediatric
health care providers, to provide them with guidelines to identify and
appropriately refer infants with vascular birthmarks, because timely referral
is essential to early intervention.
Key Players: Infants with a vascular birthmark; primary
care medical professionals who examine infants, medical specialists with
expertise in vascular birthmarks and the associated problems; medical
insurance companies; government officials.
Vision: Guidelines will be designed based on information
provided below. These guidelines will be translated and distributed to
medical professionals all over the world to assist them in timely and
appropriate specialty referral for infants with vascular birthmarks.
Statement in Support: Every year, 40,000 children are
born in the US each with a vascular birthmark. Despite the frequency of
the problem, the diagnosis, classification and treatment of vascular birthmarks
has not been uniformly included in primary care residency training curriculums.
As a result, many primary care physicians do not learn about the critical
importance of early recognition and treatment for many of these infants.
Recently, specialists from a variety of fields have recognized a significant
unmet medical need in the diagnosis and treatment of vascular birthmarks,
and have organized multi-disciplinary treatment centers. To date, there
are less than one dozen such treatment centers in the United States and
very few outside of the United States. Lacking access to care, many infants
with hemangiomas miss their window of opportunity for more effective and
less costly early intervention. Other infants with vascular malformations
are inappropriately treated for hemangiomas. The goal of Babies With Birthmarks
is to provide guidelines that can be used by all primary care providers
who care for infants with a vascular birthmark.
Recommendations for routine well-baby care in the US include examination
at 4 weeks of age. Babies With Birthmarks suggests that the 4-week check
up is the optimal time to detect a vascular birthmark. The following guidelines
were designed to help determine appropriate referral to a vascular birthmark
specialist or team.
Lesions of the Head and Neck Area (85% occur in this region) Imaging
is often required to accurately assess these cases:
1) All flat red/pink stains present at birth and still present at the
four-week check up should be examined by a vascular birthmark specialist
if the stain is in the V-1 dermatome to rule-out Sturge-Weber Syndrome.
A pediatric eye specialist should also examine the infant to rule-out
glaucoma. An MRI should also be done to rule out minigeal involvement.
2) All birthmark (flat or raised) in the V-3 dermatome, should be examined
by a vascular birthmark specialist and an pediatric ENT to rule out airway,
palate, gum involvement. If stridor is present at 4 weeks, this is an
indication of possibly airway involvement.
3) All birthmarks (flat or raised) at the base of skull should be examined
by a vascular birthmark specialist and a neurologist to rule-out nerve
involvement, especially large, rapidly growing lesions.
4) All birthmarks (flat or raised) in the orbit area should be examined
by a pediatric eye specialist first to rule out vision impairment and
then a vascular birthmark specialist to assess possible syndromes.
5) All birthmarks, especially rapidly proliferating lesions, of the nasal
tip should be referred to a vascular birthmark specialist and possibly
an ENT to prevent cartilage erosion from the lesion.
6) All birthmarks that are a wide distribution of the head and neck area
and are very rapidly proliferating should be sent immediately to a vascular
birthmark specialist to rule out a life-threatening syndrome called Kassabach-Merritt.
A pediatric hematologist should also be consulted to conduct blood work
to determine if platelets and fibrinogen levels are compromised.
7) All birthmarks of the head and neck area that bleed or are ulcerating
should be referred to a vascular birthmark specialist and/or a pediatric
ENT.
Lesions of the Extremeties and Trunkal area (imaging is often required
to assess these cases):
1) When an infant presents at birth with a vascular stain on the extremities
and/or trunk area, the infant should be referred to a vascular birthmark
specialist and possibly a pediatric orthopedic specialist to assess for
Klippel-Trenaunay Syndrome.
2) Infants presents with a rapidly proliferation large focal lesion of
the body should be referred to a vascular birthmark treatment specialist
and possibly a pediatric hematologist to rule out Kassabach-Merrit Syndrome.
3) Infants presenting with base of spine rapidly proliferating lesions
should be referred to a neurologist and a vascular birthmark specialist
to rule out neurologic involvement.
4) Infants presenting with deformities of the body with a vascular stain
should be seen by a vascular birthmark specialist and possibly a pediatric
orthopedic surgeon.
5) Infants presenting with a vascular birthmark that is bleeding or ulcerating
should be seen by a vascular birthmark specialist and pediatric dermatologist
or other specialist.
6) Infants presenting with a stain or raised lesion in the diaper area
(perienal lesions) should be seen by a vascular birthmark specialist and
a pediatric dermatologist or other laser specialist.
Lesions that are internal (always require imaging to confirm):
1) Infants presenting with distending abdomen and enlarged liver should
be examined for possibly hemangiomas of the liver.
2) Infants presenting with airway stridor should be examined for the
presence of a vascular lesions.
3) Infants presenting with seizure who have a cranial stain should be
examined for brain involvement.
4) Infants presenting with blood in the stool who have large vascular
stains of the body and extremities should be examined for internal involvement.
Always refer an infant to a specialist when:
1) At the four week check-up the lesion has rapidly proliferated.
2) At the four week check-up, the lesion continues to grow and other
milestones are negatively affected.
3) At the four week check-up if the lesion is bleeding or ulcerating.
4) At the four-week check-up if the lesion has spontaneously appeared.
5) At the four-week check up if the lesions shrinks and swells intermittently.
6) At the four-week check up if the lesion has darkened or spread.
7) At the four-week check up if the child is experiencing breathing problems.
Diagnosis/Classification/Treatment of Vascular Birthmarks:
AAD Summer 1999 James F. Nigro, MD New York, New York July 31, 1999
Diagnosis and Management of Hemangiomas and Vascular Malformations in
Childhood
I. Nomenclature of hemangiomas and vascular malformations
a. The major obstacle to the understanding and management
of vascular birthmarks
b. Mulliken and Glowacki demonstrated that
there are only two major types of vascular birthmarks based on differences
in the following categories:
-Clinical
-Histologic
-Hematological
-Radiological
-Skeletal
c. Histologic features are the most important
differences
-Hemangiomas have plump endothelia, increased mast cells, and multilaminated
basement membranes
-Malformations have flat endothelia, normal mast cell numbers, and a thin
basement membrane
d. Modern Nomenclature
-Hemangiomas are superficial, deep, or combined and may be proliferating
or involuting
-Vascular malformations may be capillary, venous, arterial, lymphatic,
or a combination of these
II. Hemangiomas
a. Introduction
-True benign neoplasm's
-Comprised of capillaries and venules in superficial and/or deep dermis
-Present during first few weeks of life
-Rapid proliferation and slow involution
-Most resolve completely without major complications
b. Incidence
-Female: male 3:1
-More common in Caucasians than in African Americans
-May be present in 10-20% of premature infants
-Solitary in 80% of patients
c. Location
-Based on percentage of body surface area, they are more common on the
face
-By strict numbers, about 30% occur on the face or scalp
d. Precursor Lesions
-Appear prior to the actual proliferation of the hemangioma
-Pale patches
-Telangiectasia
-Macular erythema
-Bluish discoloration
-May be confused with port wine stain or nevus anemicus
e. Proliferative Phase
-Superficial lesions: red, raised, firm, well-demarcated
-Deep lesions; bluish, soft, slowly enlarging
-Wide variation in size -Growth phase: 3-12 months
f. Involution Phase
-Color change from bright to dull red
-Central greying
-Gradual softening
-Eventual resolution *50% by 5 years, 70% by 7 years, 90% by 9 years
g. Alarming Hemangiomas
-Vital/Important structures: eye, larynx, distal extremities
-Cosmetically sensitive regions: nose, lip, ear -Very large trunal resolution
h. Minor Complications
-Bleeding rare in these low flow lesions
-Infection: rare
-Ulceration: rapidly growing lesions and in the diaper area
-Residua: Telangiectasia, atrophy, hypopigmentation
i. Diffuse Neonatal Hemangiomatosis
-Multiple, small, cutaneous lesions
-Dome shaped, uniform in size
-May be associated with visceral lesions
· Liver, GI, CNS
· May be asymptomatic
· High-output cardiac failure, hemorrhage, obstructive jaundice,
coagulopathy
-Involution of cutaneous and visceral lesions by age 2 years
-Ultrasound or MRI studies are indicated
-Treat symptomatic patients
j. Kasabach-Merritt Syndrome -hemangioendotheliama
or tufted angioma
-extremely is usually involved
-coagulopathy associated with platelet trapping within lesions
-high mortality rate in untreated cases
-treatment
· Surgical excision
· Interferon
· Systemic corticosteroids
k. Associated Syndromes
-less common than with vascular malformations
-PHACE(S) syndrome
· Posterior fossa CNS malformations (Dandy Walker)
· Hemangioma
· arterial anomalies
· cardiac anomalies
· eye anomalies and (sternal defects)
-lumbosacral lesions
· spinal anomalies
· genitourinary anomalies
I. Therapy
-observation
· photography
· regular follow-up visits
· reserve right to initiate therapy at a later date
-systemic corticosteriods
· 2-3 mg/kg/day for 4-6 week and then slowly taper
· younger infants may require a longer or second course
· immunizations: hold until off steroids for 1 month
· side effects: increased appetite, change in sleep patterns, fussiness
-intralesional corticosteroids
· 3-5 mg/kg/dose
· systemic absorption is significant
· potential adverse side effects
· soft tissue atrophy
· eyelid necrosis
· perforation of the globe
· retinal artery occlusion
-topical corticosteroids
· high potency
· may be effective in small superficial hemangiomas
-interferon alpha
· antiangiogenic activity
· 3 million units/meter sq/day subcutaneous
· treatment is required for several months
· excellent results in severe or life threatening hemangiomas unresponsive
to corticosteroids
· adverse effects
· fever
· neutropenia
· spastic diplegia
· motor delay
-laser
· tunable yellow dye (flash lamp pumped pulse dye)
· very thin or precursor hemangiomas
· ulcerations
· residual telangiectasia
· Nd: YAG
· Bulky facial lesions
· Increased risk of scarring
· Experimental
-surgical excision
· protuberant lesions
· consider surgical consultation when parents are very anxious
· avoid if hemangioma is diffuse -duoderm
· excellent pain control in ulcerated perineal lesions
-cryosurgery
· risk of scarring
· good results are possible with experienced hands
III. Capillary Malformations (Port Wine Stains)
a. Introduction
-vascular malformations limited to dermal blood vessels
-present at birth
-permanent
-associated with other vascular malformations and congenital syndromes
b. Incidence
-0.3% of neonates
-equal sex and racial predilection
-50% of facial PWS restricited to one trigeminal sensory region -remainder
involve more than one, cross midline, or are bilateral
c. Appearance
-pink, well-circumscribed patches
-growth is commensurate with growth of the child
-darken and thicken with age
d. Sturge-Weber syndrome -facial port wine
stain
· V1 trigeminal sensory region must be involved
-CNS
· Seizures
· Mental retardation
· Railroad track calcifications or cortex
-opthalmologic
· Ipsilateral choroidal angiomatosis
· Glaucoma (can be seen with V2 lesions involving eyelid)
e. Treatment
-tunable dye laser
· Treatment of choice
· Multiple treatments required (average 6.4)
· Very good to excellent results in most patients
· Few side effects
-Anesthesia
· General: infants and children with large lesions
· Topical: older patients with large or small lesions
· None: most adults with small lesions
-psychological evaluation
-neurologic and opthalmologic exam
-other lasers, tattooing, excision, radiation are not indicated
IV. Venous Malformations
a. clinical features
-bluish patch or mass with indistinct borders
-present at birth but may not be evident
-compressible
-phleboliths, thrombosis, hemorrage
-frequently confused with deep hemangiomas
b. treatment
-none
-surgical excision
· Image prior to surgery to determine extent of lesion -sclerotherapy
-elastic stockings
V. Arteriovenous Malformations
a. clinical features
-high flow-may involve bone, muscle, viscera
-often undiagnosed until adulthood
-discoloration or pulsatile mass may be noted
b. treatment -surgical excision -embolization
VI. Lymphatic Malformations
a. localized or diffuse
b. may slowly enlarge over time
c. may be confused with deep hemangiomas
d. superficial lesions may respond to laser
therapy
e. incomplete surgical excision can lead
to massive overgrowth
f. support garments
VI. Syndromes Associated with Vascular Malformations
a. Klippel-Trenaunay
-definition: soft tissue hypertrophy and bony overgrowth of extremity
with PWS
-clinical features
· Usually single lower extremity
· Overgrowth not present at birth
· Significant limb length discrepancy
· Prominent hypertrophy of foot and toes
· No CNS or visceral anomalies
-treatment
· Premature epiphyseal closure of longer leg
· Surgical debulking is usually not feasible
b. Maffucci's syndrome venous malformations
-enchondromes -distal extremities
c. Blue Rubber Bleb Nevus syndrome -venous
malformations of skin and GI tract -compressible, painful lesions -GI
hemorrage is common cause of death
d. Gorham's syndrome -venous and lymphatic
malformations involving skin and skeleton -osteolytic bone disease
e. Proteus syndrome: PWS, partial gigantism,
macrocephaly, epidermal nevi
f. Wyburn-Mason syndrome: retinal and CNS
AVM, facial PWS
g. Riley-Smith syndrome: cutaneous venous
malformation, macrocephaly
h. Cobb syndrome: venous malformations of
spinal cord, truncal PWS
i. Bannayan-Zonana syndrome: subcutaneous/
visceral venous malformation, lipomas, macrocephaly
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