Vascular anomalies: Clinicians must treat underlying disease in children with port wine stains

July 1, 2008

When children present with port wine stains, clinicians should consider serious conditions and underlying disease. Vascular anomalies can be classified into two major groups: vascular tumors, which infantile hemangiomas are the most frequent, and vascular malformations.

Key Points

Toronto - Clinicians must consider the potential for more serious conditions and underlying disease when they see port wine stains in children, says the director of pediatric dermatology at Ste. Justine Hospital in Montreal, Canada.

A pediatric patient with a port wine stain or capillary malformation on a limb, for example, may have a more complex condition such as Klippel-Trenaunay Syndrome, according to Julie Powell, M.D., associate professor of pediatrics and dermatology at the University of Montreal in Montreal, Canada, and a member of the multidisciplinary vascular anomalies team at Ste. Justine Hospital.

Dr. Powell says vascular anomalies could be classified into two major groups: Vascular tumors - of which infantile hemangiomas are the most frequent - and vascular malformations.

Each type of lesion has a characteristic imaging appearance. Correctly classifying the anomaly is essential in guiding management of the lesions.

The most common vascular malformation encountered is capillary malformation or port wine stain, which can be associated with other anomalies.

Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome is a congenital vascular condition that is characterized by a usually extensive capillary malformation ("port wine stain") on a limb, varicose veins and hypertrophy of the limb.

Children with Klippel-Trenaunay syndrome "can develop significant asymmetry of their limbs, resulting in functional impairment or scoliosis. When the leg length difference is more than 2 cm, orthopedic evaluation is indicated," Dr. Powell tells Dermatology Times.

There is no cure for Klippel-Trenaunay syndrome. Treatment consists mainly of compressive garments to prevent progression of the disorder; pulsed-dye laser therapy can diminish skin lesions, but does not affect the progression of the condition. Surgical options are limited, and mainly consist of epiphysiodesis to correct the leg discrepancy.

Complications of this syndrome include scoliosis, progressive venous and/or lymphatic insufficiency that can lead to significant morbidity in adolescence and adulthood. Early identification and initiation of compressive treatment is essential.

Sturge-Weber syndrome

Another type of vascular malformation is Sturge-Weber syndrome, which features facial port wine stains. The syndrome consists of a facial capillary malformation, usually unilateral, and ipsilateral leptomeningeal vascular anomalies that can result in seizures, secondary mental retardation and ocular anomalies such as glaucoma, Dr. Powell says.

Children with a facial port wine stain must be assessed to ensure that there isn't neurological involvement. As a rule of thumb, if the facial port wine stain involves the eyelids and forehead (V1 territory), there is heightened concern of neurological involvement.

If the port wine stains occur on the lower portion of the face, no neurological involvement is expected, and no imaging is necessary, according to Dr. Powell.

These children should undergo ophthalmic evaluations twice a year for two years and annually thereafter.

In terms of diagnostic tools, magnetic resonance imaging (MRI) is more sensitive than computed tomography (CT) scanning when Sturge-Weber Syndrome is in early stages. Newer forms of imaging, such as single photon-emission CT and positron-emission tomography, can be employed to evaluate regional blood flow and procure an image of cerebral function, but are not generally available yet except on an experimental basis.

Because Sturge-Weber Syndrome can be disfiguring, children with the condition "can have social and psychological problems integrating in school," Dr. Powell says.

"Psychologists and social workers can assist the children and their families to help children grapple with social integration challenges by setting up support groups for them," he says.

Children with vascular malformations need to be monitored throughout life. Their malformations can progress during puberty, because of hormonal changes, Dr. Powell says. Interdisciplinary care is essential in these individuals.

Molecular genetics

Researchers in molecular genetics are investigating clues to assist in early diagnosis of vascular malformations such as familial venous malformations, glomuvenous malformations and familial capillary arteriovenous malformation syndrome, Dr. Powell says. The research, most of which is based in Europe, may lead to a molecular classification of vascular anomalies in the future.