Diagnosis and Management of Hemangiomas and Vascular Malformations in Childhood

AAD Summer 1999 James F. Nigro, MD

New York, New York July 31, 1999

Nomenclature of hemangiomas and vascular malformations

• The major obstacle to the understanding and management of vascular birthmarks
• 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
• 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
• 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

Hemangiomas

• • 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
  • 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
  • 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
  • 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
  • Proliferative Phase -Superficial lesions: red, raised, firm, well-demarcated
    -Deep lesions; bluish, soft, slowly enlarging
    -Wide variation in size -Growth phase: 3-12 months
  • 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
  • Alarming Hemangiomas -Vital/Important structures: eye, larynx, distal extremities
    -Cosmetically sensitive regions: nose, lip, ear -Very large trunal resolution
  • Minor Complications -Bleeding rare in these low flow lesions
    -Infection: rare
    -Ulceration: rapidly growing lesions and in the diaper area
    -Residua: Telangiectasia, atrophy, hypopigmentation
  • 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
  • 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
  • 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
  • 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

Capillary Malformations (Port Wine Stains)

• • • Introduction -vascular malformations limited to dermal blood vessels
      -present at birth
      -permanent
      -associated with other vascular malformations and congenital syndromes
    • 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
    • Appearance -pink, well-circumscribed patches
      -growth is commensurate with growth of the child
      -darken and thicken with age
    • 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)
    • 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

Venous Malformations

• • • • • 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
        • Treatment -none
          -surgical excision
          -Image prior to surgery to determine extent of lesion -sclerotherapy
          -elastic stockings

Arteriovenous Malformations

• • • • • Clinical features -high flow-may involve bone, muscle, viscera
          -often undiagnosed until adulthood
          -discoloration or pulsatile mass may be noted
        • Treatment -surgical excision -embolization

Lymphatic Malformations

• • • • • localized or diffuse
        • may slowly enlarge over time
        • may be confused with deep hemangiomas
        • superficial lesions may respond to laser therapy
        • incomplete surgical excision can lead to massive overgrowth
        • support garments

Syndromes Associated with Vascular Malformations

• • • • 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
      • Maffucci’s syndrome -venous malformations
        -enchondromes
        -distal extremities
      • Blue Rubber Bleb Nevus syndrome -venous malformations of skin and GI tract
        -compressible, painful lesions
        -GI hemorrage is common cause of death
      • Gorham’s syndrome -venous and lymphatic malformations involving skin and skeleton
        -osteolytic bone disease
      • Proteus syndrome: -PWS,
        – partial gigantism,
        –  macrocephaly,
        – epidermal nevi
      • Wyburn-Mason syndrome: – retinal and CNS AVM,
        – facial PWS
      • Riley-Smith syndrome: – Cutaneous venous malformation,
        – Acrocephaly
      • Cobb syndrome: – venous malformations of spinal cord,
        – truncal PWS
      • Bannayan-Zonana syndrome: – subcutaneous/ visceral venous malformation, -lipomas,
        – macrocephaly