BASICS

DESCRIPTION

Rapidly growing benign blood vessel tumor of the periorbital tissues

EPIDEMIOLOGY

1–2.6% of neonates (1)

RISK FACTORS

• Female sex (1)

• Caucasian race (1)

• Prematurity (1)

• Chorionic villus sampling (2)

• Family history

Genetics

• Most are sporadic without hereditary component

– Familial form is a highly penetrant autosomal dominant trait with variable expression, linkage to chromosome 5q31–33 (2)

GENERAL PREVENTION

Genetic counseling for familial form

PATHOPHYSIOLOGY

Increased local expression of vascular endothelial growth factor (VEGF) during proliferative stage. During involutional phase, VEGF expression decreases (2)[C].

ETIOLOGY

Hamartomatous growth of blood vessels.

COMMONLY ASSOCIATED CONDITIONS

• PHACES: Posterior fossa malformations, hemangiomas (usually large facial), arterial anomalies, coarctation of the aorta and other cardiac defects, eye abnormalities (especially optic nerve malformation), sternal clefting and supraumbilical raphe

• Kasabach-Merritt syndrome: Consumptive coagulopathy with thrombocytopenia, associated with very large capillary hemangiomas

• Diffuse neonatal hemangiomatosis

• Maffucci syndrome: Endochondromas, bony deformities, and diffuse hemangiomas

• Klippel-Trenaunay syndrome: Rare triad of capillary or cavernous hemangioma, venous malformations, and soft tissue or bony hypertrophy

DIAGNOSIS

HISTORY

• Rapid growth and proliferation of a vascular lesion in the first 6 months of life

– Presentation is variable, may be red macule or no lesion noted

• Spontaneous involution begins during second year of life and may continue for almost 10 years.

PHYSICAL EXAM

• Full ocular examination with special attention to refraction (can induce myopia or astigmatism)

• Measure size of lesion/photograph if possible

• Systemic examination for other anomalies

• Vascular nature of lesion gives it a reddish color if superficial and bluish–purple color if subcutaneous

• Lesion is compressible and blanches to touch

• Mass may swell and become more violaceous when baby cries or when placed in Trendelenburg position.

• Attention to obstruction of visual axis, preference of fixation, and chin lift (indicating likely binocular fusion).

• Assess for proptosis, optic nerve compression, or fullness of temporal fossa.

DIAGNOSTIC TESTS & INTERPRETATION

Lab

Initial lab tests

• None if no systemic involvement

• CBC with platelet count for large lesions or if other signs of small vessel bleeding (e.g., petechia)

Follow-up & special considerations

• Counsel parents that wheezing may indicate airway hemangioma and to seek immediate medical care

• Bleeding or petechia indicate consumptive coagulopathy (Kasabach-Merritt syndrome)

Imaging

Initial approach

• Ultrasound of the lesion demonstrates compressibility, internal reflectivity, and indiscrete borders

– Computed tomography (CT) less favored because of radiation to the infant, but can determine if there is any associated bony erosion.

– Magnetic resonance imaging (MRI) demonstrates indiscrete margins and vascularity when comparing T1- and T2-weighted images.

– Orbital and brain imaging if proptosis, full temporal fossa, indication of optic nerve compression (e.g., afferent pupillary defect).

Follow-up & special considerations

Close follow-up of the ophthalmic examination during the proliferative phase as astigmatism, anisometropia, and ptosis can cause profound amblyopia.

Diagnostic Procedures/Other

• Doppler of lesion demonstrates vascularity

– Biopsy may be necessary if cannot rule out rhabdomyosarcoma

Pathological Findings

Proliferative phase marked by rapid proliferation of capillaries lined by endothelial cells with high mitotic rates and accompanying fibroblasts, pericytes, and mast cells. During involution there is drop-off of mitosis with apoptosis of endothelial cells.

DIFFERENTIAL DIAGNOSIS

• Rhabdomyosarcoma (usually superior temporal or nasal)

• Lymphangioma

• Cavernous hemangioma

• Nevus flammeus (does not gain volume)

• Port wine mark (does not gain volume until much later in childhood)

• Arteriovenous malformation

• Neuroblastoma

• Encephalocele (usually superior nasal)

• Lacrimal sac mucocele (inferior nasal)

TREATMENT

MEDICATION

Only indicated when visual axis obstructed and amblyopia unresponsive to penalization or occlusion of the contralateral eye.

First Line

• Beta-blocker therapy is rapidly becoming first-line treatment modality (3)

– Systemic treatment with 1–2 mg/kg/d of propranolol divided b.i.d has produced dramatic involution of lesions. There is no universally accepted protocol for initiation of therapy. A history of bronchospasm, cardiac disease, or CNS vascular anomaly may be a contraindication to therapy.

• Topical treatment with timolol eyedrops or gel has produced results similar to systemic treatment in isolated cases but has not been rigorously studied (4)[C].

Second Line

• Corticosteroid therapy has been the most commonly used treatment modality until recently (1)

– Oral therapy has a 30–90% response rate. Particularly useful in treating deep orbital lesions. Complications include pituitary/adrenal suppression, immunological suppression, and Cushing syndrome. Dose 1–2 mg/kg/d. Some have used as much as 4 mg/kg/d

– Intralesional steroid therapy has a 60–80% response rate. Potential complications: Central retinal artery occlusion, eyelid necrosis, eyelid depigmentation, and subcutaneous fat atrophy. Adrenal suppression also reported.

– Topical steroid therapy may be helpful. Skin changes have been reported and adrenal suppression can be seen with high-dose, extended treatment.

• Interferon alfa can be effective but rarely used because of high rate of toxicity in children. Efficacy may be increased if used with steroids.

– Spastic diplegia, seizures, coma

– Liver toxicity

– Hematologic abnormalities

ADDITIONAL TREATMENT

General Measures

• Observation if no obstruction of visual axis or significant astigmatism

• Treatment of amblyopia with atropine penalization or occlusion of the contralateral eye along with spectacle if indicated

Issues for Referral

• Prompt ENT referral for airway hemangiomas

• Genetic counseling if familial form or associated conditions

• Hematology consultation if Kasabach-Merritt syndrome

• Neurosurgical consultation if orbital/brain involvement

Additional Therapies

• Laser therapy may occasionally benefit superficial lesions. Several different types of laser have been used

– Carbon dioxide (CO₂)

– Argon

– Neodymium:Yttrium-aluminum-garnet (Nd:YAG)

– Pulsed dye lasers

COMPLEMENTARY & ALTERNATIVE THERAPIES

None proven or indicated

SURGERY/OTHER PROCEDURES

• Embolectomy usually not indicated for orbital and adnexal lesions.

• Complete or partial excision of sight-threatening lesions resistant to other treatment modalities may be necessary on rare occasions.

• Surgical excisions/facial plastic procedures may be done after involution.

IN-PATIENT CONSIDERATIONS

Initial Stabilization

If airway concerns, this is primary consideration.

Admission Criteria

Some have recommended inpatient initiation of systemic beta-blocker treatment with appropriate monitoring.

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

• Rebound recurrence of the lesion has been seen on cessation of all forms of steroid and beta blocker therapy.

• Close follow-up during proliferative phase as amblyopia is common

– Spectacles for significant astigmatism

– Penalization/occlusion therapy as needed

– Medically treat if not responsive to conservative therapy

• Subsequent follow-up for appearance issues

– Defer surgery until involution complete, if possible

Patient Monitoring

• Vision/refraction

• Psychosocial interactions

PATIENT EDUCATION

Family support network: National Organization of Vascular Anomalies (NOVA): http://www.novanews.org

PROGNOSIS

• Approximately 40% of lesions spontaneously involute by 4 years old and 70% by 7 years old.

• Astigmatic refractive errors are seen in 20–46% of patients with eyelid or orbital capillary hemangiomas (5)[C].

• One-third of patients with anisometropia had visual acuity of 20/60 or worse in the affected eye (5)[C].

COMPLICATIONS

• Lid deformity

• Scarring, hypopigmentation, or atrophy of skin

• Facial asymmetry

• Psychosocial issues related to appearance

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