Arterial Vascular Malformations Including Hemangiomas and Lymphangiomas Clinical Presentation

Updated: Feb 24, 2017
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Mary C Mancini, MD, PhD, MMM  more...
  • Print
Presentation

History and Physical Examination

Hemangiomas are most commonly located on the head and neck (59%), followed by the trunk (24%), lower extremities (10%), and upper extremities (7%). [23] Most are less than 2 cm in diameter, but some can cover large portions of the body (see the images below).

Fully developed vascular tumor on trunk of infant. Fully developed vascular tumor on trunk of infant.
Large vascular tumor encompassing upper extremity Large vascular tumor encompassing upper extremity and portions of trunk, clinically diagnosed.

Typical presenting symptoms occur superficially, and the appearance can range from a hypopigmented macule to a bruiselike macule. [24] The course of these lesions includes a proliferative postnatal growth phase that lasts for 3-9 months, with a gradual involution that occurs over 2-6 years. Involution is usually complete by age 7-10 years. Only 50% of patients have completely normal-appearing skin at this time.

Recognizing atypical presentations and subclassifications of hemangiomas is critical for prognostic and treatment purposes. A congenital hemangioma is a lesion that is fully developed at birth. Deep hemangiomas have a blue discoloration because of their proliferation in the dermis and subcutaneous tissues. Multiple hemangiomas, often referred to as hemangiomatosis, appear as multiple smaller lesions. Pseudoclubbing may be the first sign of an underlying subungual hemangioma. [25]

When evaluating hemangiomas, a family history should be elicited. Although most are sporadic, infantile hemangiomas may be the result of an autosomal dominant trait. One study suggests that the formation of hemangiomas may be associated with mutational events that result in a loss of heterozygosity at a specific locus on chromosome 5. [26] Mutations in genes responsible for regulation of vascular development, such as FGF-4, PDGF-b, and a tyrosine-kinase gene, have been linked to familial forms of hemangioma. [27]

Because hemangiomas may be a part of a syndromic complex, query about other symptoms that may be associated with Klippel-Trenaunay-Weber or Sturge-Weber syndromes. The triad of Klippel-Trenaunay-Weber syndrome symptoms includes vascular tumors of the limbs, trunk, or perineum; varicose veins; and bony and/or soft tissue hypertrophy of the extremities. [2] (See the image below.)

Lower extremity port-wine stain in patient with Kl Lower extremity port-wine stain in patient with Klippel-Trenaunay-Weber syndrome.

The presenting symptom in patients with Sturge-Weber syndrome is often a facial lesion, most commonly a nevus flammeus located in the V1-V2 dermatomes. Other findings include a history of epileptic seizures, hemiplegia, visual field defects, and glaucoma. [3]

Most lymphangiomas are clinically apparent at birth, and almost all are apparent by age 2 years. Most appear as soft doughy masses that are located in the head and neck region, and most have no associated symptoms. Clinical manifestations are dependent on the flow of lymph within the channels of the lesion. Lymphangiomas may manifest as lymphedema, and larger lesions can involve the skeletal system and cause gross disfigurement. Large malformations in the neck or mediastinum can compromise the airway, leading to stridor, dysphonia, or dyspnea.

Lymphangiomas have also been found in patients with Turner syndrome, Klinefelter syndrome, and Noonan syndrome. Sometimes, a lymphoma may require distinction for lymphangiomalike Kaposi sarcoma in the skin or oral mucosa. [28]  On dermoscopic examination, lymphangiomas may show yellow lacunae surrounded by pale septa and reddish to bluish lacunae. [29]

Infantile hemangioma precursors, or those without a proliferative phase, may have dermoscopic features of red round globular vessels, red commalike vessels, and red linear vessels, allowing their distinction from a port-wine stain. [30] Early white discoloration of infantile hemangioma portends ulceration, whereas a lack of substantial white discoloration early in infancy reflects a low risk of it. [31]

Next:

Classification

Vascular tumors and malformations have often been described using a classification system based on morphologic characteristics. This practice has given rise to countless names that are interchangeably used, often befuddling medical professionals.

In 1982, Mulliken and Glowacki proposed a biologic classification of vascular tumors and malformations that has since gained wide acceptance. [1] This system correlates histologic features with historical and physical findings to provide a simplified classification of vascular lesions. The system has been modified slightly over the years to incorporate new information. Mulliken and Glowacki used the following criteria to separate vascular malformations into two broad categories:

  • Vascular tumors, also known as hemangiomas - These tumors exhibit endothelial hyperplasia; approximately 30% are visible at birth, and the remaining 70% appear in children aged 2-4 years; postnatal growth is rapid, and involution is slow; in 1996, the International Society for the Study of Vascular Anomalies added the rapidly involuting congenital hemangioma, noninvoluting congenital hemangioma, kaposiform hemangioendothelioma, tufted angioma, and pyogenic granuloma to the list of vascular tumors
  • Vascular malformations - These are subdivided into high-flow (arterial, arteriovenous) malformations and slow-flow (venous, capillary, lymphatic) malformations; they exhibit normal endothelial turnover; approximately 90% are recognized at birth, and the lesions increase in size as the child grows

There are a number of vascular malformations with specific clinical and radiologic characteristics in the lower limbs, including the following [32] :

  • Klippel-Trénaunay syndrome
  • Port-wine stain with or without hypertrophy
  • Cutis marmorata telangiectatica congenita
  • Macrocephaly-capillary malformation
  • Parkes Weber syndrome
  • Stewart-Bluefarb syndrome
  • Venous malformation
  • Glomuvenous malformation
  • Lymphatic malformation

Extensive vascular malformations may be complex and associated with underlying disease or systemic anomalies. [33]

Capillary and lymphatic malformations are the focus of this article and are used as models for vascular malformations.

The fading macular stain (ie, stork bite, salmon patch, nevus flammeus) is a common lesion that is often grouped with capillary malformations because of their similar appearance. The terms used to describe fading macular stains have often been used interchangeably with those for port-wine stains. This usage is incorrect, because fading macular stains are not permanent anomalies and hence are not true vascular malformations. Fading macular stains are discussed only briefly because they should be included in the differential diagnosis of port-wine stains.

Previous
Next:

Complications

Vascular tumors

In some cases, hemangiomas can be life-threatening or severely problematic, interfering with eating, breathing, seeing, hearing, and speaking. These cases require immediate and aggressive intervention because delayed treatment can lead to improper development of these organ systems.

The most common sequela of untreated problematic vascular tumors is amblyopia secondary to lesions of the upper eyelid. Such cases should be immediately evaluated by an ophthalmologist. Hemangiomas located on internal organs can be dangerous because they are difficult to detect. Furthermore, by the time they are detected, the infant often requires aggressive treatment. Despite intervention, internal hemangiomas are still associated with a high mortality.

Infants who have hemangiomatosis (ie, multiple smaller hemangiomas) may also have internal lesions. Visceral hemangiomas occur in the liver, intestines, airway, and brain. If an infant has more than three clinically apparent hemangiomas, ultrasonography of the entire body should be performed to rule out internal lesions. In rare cases, a brain tumor (eg, an astrocytoma) may be evident in Klippel-Trenaunay-Weber syndrome. [34]

Other suspicious findings include the following:

  • Jaundice, which may be a sign of liver hemangiomas
  • Bloody stools, which may be a sign of gastrointestinal hemangiomas
  • Stridor or dyspnea, which may be a sign of airway hemangiomas

Capillary malformations

Patients with port-wine stains should be evaluated and monitored for a larger syndromic entity.

Hemangiomas that are part of the Klippel-Trenaunay-Weber syndrome can be located on the lungs, spleen, liver, bladder, or colon. Visceral involvement can often lead to substantial morbidity in the form of internal hemorrhage.

The recognized components of Sturge-Weber syndrome can appear at various points in the patient's life. Neurologic findings are evident within the first 2 years of life, often manifesting as seizures. In addition, patients can exhibit hemiparesis, visual field defects, or lower intelligence quotient (IQ) scores. Ocular defects, such as glaucoma or ocular hemangiomas, can lead to visual loss or retinal detachment that requires prompt evaluation and treatment.

Lymphatic malformations

Complications of lymphangiomas depend on the location and extent of disease.

Diffuse cervicofacial disease can result in mandibulomaxillary hypertrophy because of direct invasion of the bone and growth of the malformation within the bone. A secure airway is also essential in these patients; a tracheostomy may be required to avoid acute respiratory problems.

Lymphangiomas often swell with the onset of general viral infection or remote bacterial infection. This typically resolves with the resolution of the infection. Occasionally, lymphangiomas can become infected, and intravenous (IV) antibiotic treatment is required.

Collision of vascular and pigmentary anomalies

Occasionally, a vascular anomaly with be seen in association between congenital melanocytic nevi and infantile hemangiomas. [35] For example, a Spitz nevus may arise in direct contiguity to a glomuvenous malformation, or phakomatosis pigmentovascularis may be seen in association with congenital melanocytic nevus.

Previous