Clinical Reference / Therapeutic Strategies / Vascular Birthmarks

Vascular Birthmarks


Key Points

  • Vascular birthmarks are cutaneous vascular lesions present at, or shortly after, birth. They may be categorized as vascular tumors or vascular malformations.
  • The term hemangioma has previously been used to describe many common, typically benign vascular birthmarks that present in infancy with a wide spectrum of clinical presentations. Recent changes in the classification now restrict the term hemangioma to describe hemangioma of infancy, a benign, self-involuting, endothelial tumor that presents early in infancy and spontaneously resolves within the first few years of life.
  • Most hemangiomas of infancy (HOI) do not require treatment or intervention. In rare cases, HOI can be life-threatening and may require intervention. Several treatment options are now available.
  • HOI must be distinguished from other vascular birthmarks, many of which are present at birth and persist throughout life. Appropriate diagnosis is necessary to guide counseling of patients and their families, and will best define treatment options as necessary. This distinction is also important because other vascular birthmarks may represent a manifestation of a syndrome with extracutaneous involvement or may be symptomatic lesions with deep subcutaneous involvement (such as certain vascular malformations).

Introduction

Vascular birthmarks may be divided into vascular tumors, such as a hemangioma of infancy, and vascular malformations, such as a port-wine stain. These two clinical entities are the most common of vascular birthmarks and will be the focus of this discussion.

Appropriate diagnosis is necessary to guide counseling of patients and their families and best defines treatment options as necessary.

Historically, there has been significant confusion around the term hemangioma. Prior to current classification schemes, the term hemangioma was utilized as a generic term for any vascular tumor or malformation. In skin, this term included a wide clinical spectrum of vascular birthmarks. The term hemangioma is now restricted to hemangioma of infancy, a spontaneously involuting vascular tumor of infants.

Vascular malformations have a distinct natural history; they are present at birth and often persist throughout life. Most are benign lesions, such as a nevus simplex (a.k.a. salmon patch) or a port-wine stain. However, some represent a manifestation of a syndrome with extracutaneous involvement or may be symptomatic lesions with deep subcutaneous involvement (such as vascular malformations). Vascular malformations may be comprised of venous, arteriovenous, capillary, or mixed components; careful examination for an arterial component and for extensive subcutaneous involvement may prompt radiographic imaging as an essential step in the diagnostic evaluation.

Hemangiomas of infancy (HOI)

The current classification of vascular birthmarks defines cutaneous HOI as benign, self-limited vascular tumors that present early in infancy and spontaneously involute typically within the first few years of life. They are typically comprised of endothelial cells (staining GLUT-1 positive on biopsy) and blood, without organized blood flow. In most cases, HOI represent asymptomatic benign lesions that do not require immediate intervention; options for later treatment may involve laser-assisted removal, and in rare cases, excision, and is usually indicated for cosmetic reasons. Complete spontaneous involution, or with minimal traces of the lesion, is the most common outcome. In rare cases, HOI may become highly inflammatory, ulcerate, or impose hemodynamic instability due to extensive size; in the setting of symptomatic HOI or ones involving the face or mucosal site, immediate intervention may be required. Facial HOI, especially those involving the chin or “beard” areas, may carry increased risk of airway involvement; urgent otolaryngology referral is recommended.

HOI may be more common in premature infants, especially females and infants of birth pairs (i.e., twins).

HOI are commonly located on the face and neck. HOI typically present in the first few days to weeks of life as a subtle erythematous macular lesion that rapidly proliferates over weeks to months to form a bright red, soft, papillated tumor. Dulling of the erythema or development of a dusky blue hue heralds the process of self-involution; the lesion will flatten and restore normal skin coloration over months to years. When complete, involution of HOI may leave only a residual discoloration or may be almost imperceptible-sometimes with trace epidermal atrophy only. In many cases, spontaneous involution may achieve better cosmetic results than early surgical or laser removal.

Port-wine stain (PWS)

Port-wine stains are capillary-venular malformations that are present at birth and persist throughout life. Clinically, they are brightly erythematous geographic patches. With time, typically in adulthood, these lesions will dull in color and may develop eczematous inflammation, hypertrophy, and/or a papillated or cobblestoned surface.

Most port-wine stains are benign, however, in rare cases a PWS is associated with a syndrome with extracutaneous manifestations. Anatomic location of the PWS can be helpful to raise suspicion for such syndromes. For example, those involving the V1 distribution on the face have a risk of Sturge-Weber syndrome. All individuals with port-wine stains involving the eyelid should have ophthalmologic evaluation for glaucoma, and parents and health care providers should be aware of the possibility of seizures or other neurologic abnormalities, which can develop later in infancy. Port-wine stains of the extremities can be associated with underlying vascular anomalies and/or soft tissue overgrowth (so-called Klippel Trenaunay syndrome). It is important to note that most port-wine stains have no associated anomalies.

Initial Evaluation

Hemangioma of infancy

Port-wine stain

Differential diagnosis

Cherry hemangioma

Tufted hemangioma

Spider angioma

Lymphangioma circumscriptum

Treatment

Treatment of hemangioma of infancy

HOI present shortly after birth, and undergo periods of rapid growth during infancy and spontaneous involution during infancy or childhood. Rapid growth may cause severe disfigurement, vision impairment, mechanical obstruction of orifices or airway, hemodynamic instability or high-output heart failure; these problems require therapeutic intervention.

Initial therapy

  • For small, asymptomatic, non-ulcerated lesions, wait for spontaneous involution during childhood. Only waiting and observation is necessary. Careful measurements and photographic documentation may assist the serial clinical evaluation of these lesions.
  • Administer systemic steroids if the rapid growth phase causes the medical or cosmetic problems described above. Prednisone 1-2 mg/kg/day in a single or divided dose is often effective, and lesions respond in 2-4 weeks. Continue systemic steroids at the calculated dose for 1-2 months after the lesion has stabilized, and then gradually taper over the next 4-6 weeks.
  • Systemic propranolol is an emerging therapy that may be highly effective for the management of rapidly growing or ulcerating hemangiomas; this therapy may impose hemodynamic instability of the infant and should be performed in an inpatient setting by clinicians who have expertise utilizing this newer treatment modality.

Subsequent therapy

  • Recommend covering the residual hemangioma with cosmetic camouflage if the patient and parents desire.
  • If involution has stabilized and is not complete, consider use of a pulse-dye laser. Laser-assisted removal of HOI can be delayed until later in childhood. It is important to note that pulse-dye laser of HOI may carry a higher risk of scarring than its use for port-wine stains. Referral to a dermatologist or laser surgeon is recommended.
  • Repeat a course of systemic steroids if inflammation or ulceration of a lesion recurs.

Pitfalls

  • Manage rapidly growing hemangiomas in consultation with pediatricians and appropriate subspecialists.
  • In most cases, avoid surgical excision as a solution. These procedures are often ineffective and may cause disfiguring scars.
  • Patients with rapidly growing or ulcerating HOI who are treated with prednisone require consideration of concomitant antibiotic prophylaxis for Pneumocystis jirovecii pneumonia (previously known as Pneumocystis carinii pneumonia, or PCP). There are several case reports in the literature of PCP occurring in infants with HOI treated with high-dose corticosteroids.

Treatment of port-wine stain

  • Clinical evaluation should be the first step, with diagnostic consideration for a port-wine syndrome with extracutaneous involvement.
  • If there are no concerns for a syndrome associated with a port-wine stain, then serial clinical evaluation is the primary therapeutic strategy.
  • Camouflaging cosmetics is a highly effective strategy to minimize the cosmetic impact of a port-wine stain; Covermark and Dermablend are two commercially available brands of camouflaging cosmetic lines.
  • Pulse-dye laser may be an effective treatment to remove or minimize the appearance of a port-wine stain.
  • With time, port-wine stains may develop inflammation (such as eczematous changes) or textural changes (hypertrophy, or a papillated or rough surface). This may indicate topical corticosteroids appropriate for the anatomic site, and/or laser removal.

When to consult a dermatologist

  • When the diagnosis of a vascular birthmark is not clear.
  • For large HOI, especially involving the face, mouth, or airway.
  • In the case of a highly inflammatory or ulcerating HOI.
  • For co-management of high-dose corticosteroids or propranolol for HOI.
  • If there is a concern for a clinical syndrome with cutaneous and extracutaneous manifestations, such as PHACE (posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta and other cardiac abnormalities, and eye abnormalities).
  • For consideration of laser or surgical removal of a vascular birthmark.

Clinical Cases

Case 1

  • 6-month-old healthy female
  • Born at 35 weeks gestational age without complications
  • Presents for initial evaluation of a left forehead lesion involving the superior left eyelid
  • Lesion not present at birth
  • Lesion developed at 3 weeks of life and is rapidly growing
  • Lesion is asymptomatic
  • Lesion beginning to distort anatomy of the left orbit, obstructing vision

Initial evaluation

  • Clinical diagnosis: hemangioma of infancy
  • Given rapid growth, visual impediment with potential impairment of visual development, treatment is implemented
  • Prednisone 1 mg/kg/day started (note: propranolol would also be a reasonable intervention in this case if expertise in inpatient setting available)
  • Referral for ophthalmologic evaluation
  • 4-week follow-up

4-week follow-up evaluation

  • Lesion with increased pallor and flattened in appearance
  • Review of systems do not reveal any significant adverse effects of systemic corticosteroids
  • Recommendation to taper prednisone slowly over three months with interval clinical evaluation
  • Lesion involutes with no visual or cosmetic impairment

Case 2

  • 6-year-old healthy boy
  • Presents for initial evaluation of a birthmark on the right cheek
  • Lesion present at birth
  • Lesion is asymptomatic
  • Patient and parents express dislike of the cosmetic appearance of the lesion

Initial evaluation

  • Clinical diagnosis: port-wine stain (PWS)
  • No eyelid involvement (makes Sturge-Weber less likely)
  • Natural history of PWS discussed
  • Treatment options reviewed: no treatment, pulse-dye laser
  • Family chooses to pursue pulse-dye laser

Follow-up evaluation

  • Lesion appearance significantly improved after two sessions of pulse-dye laser

References

Cordoro KM, Speetzen LS, Koerper MA, Frieden IJ (2009) Physiologic changes in vascular birthmarks during early infancy: Mechanisms and clinical implications, JAAD, 60: 669-675.

Garzon MC, Huang JT, Enjolras O, Frieden IJ (2007) Vascular malformations: Part I. JAAD, 56: 353-370.

Mulliken JB, Glowacki J (1982) Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg, 69: 412-422.

Storch CH, Hoeger PH (2010) Propranolol for infantile haemangiomas: insights into the molecular mechanisms of action. BJD, 163: 269-274.