Pediatric Pearls Perfectly Repolished: Part 3 Worry or Not Worry: Which Vascular Birthmarks Need Further Evaluation?

Ilona J. Frieden, MD

 

Sturge-Weber Update

Sturge-Weber syndrome (SWS) is the triad of a port wine stain involving a V1 distribution as well as brain vascular malformations and often times glaucoma along with other ocular sequalae.  A recent report, published in December of 2011, from the Brain Vascular Malformation Consortium and the Sturge-Weber Syndrome National Workgroup. The experts discussed the disease in a broader sense to really examine what is going on now with the disease, what can physicians do currently and what does future look like as far as new developments in science.

Neurologic  Status

Usually with PWS, the patient has roughly a 30% chance of having unilateral, ipsilateral brain involvement to the PWS; however, in some cases with bilateral PWS there can be bilateral brain involvement that can correlate to a poorer prognosis. Epilepsy was found in 75-80% of patients with SWS and the vast majority will have an onset by age one (75%). It important to know that if a child over the age of two presents with a PWS and have been asymptomatic neurologically they are unlikely to have SWS.  When looking at outcomes, cognition was variable but it was worse in patients with seizures. In older patients, migraines or migraine-like headaches were a major issue. Endocrine disorders, especially growth hormone  deficiency and central hypothyroidism, have also been seen in some  patients.

Imaging Studies: Which to Do and What They Tell Us

There really isn’t a right answer as to whether or not one should be doing routine imaging in all infants with PWS in a V1 distribution to assess for the possibility of Strurge-Weber. The standard imaging modality used MRI with contrast; however, that is not always diagnostic in young infants because it is not adequately sensitive. The newly developed Susceptibility Weighted Imaging (SWI) MRI may make earlier detection possible and is more sensitive for venous disease which also may be present as a part of SWS.   Currently, Dr Frieden typically does not routinely do imaging as this will not necessarily change management in otherwise asymptomatic children.  However she  does routinely send these at-risk children to an ophthalmologist.

Another important part of imaging studies, however, is in helping to  better understand the disease. Imaging has shown us that brain disease is progressive, not static in SWS and that though initially increased blood vessels and hyperperfusion are present, over time,  hypoperfusion of parenchyma develops and this  correlates with functional impact. Functional PET imaging is also playing an increasing role in prognosis and pre-surgery planning for patients with intractable seizures.

Future Diagnostic Directions

Quantitative EEG (qEEG) in a non-invasive test that uses math signal processing for interpretation, rather than looking at just the morphology of the spikes and waves. qEEG was able to distinguish young infants with and without SWS correctly with high reliability (but small numbers). Transcranial Doppler is a non-invasive flow measure used in Sickle-Cell disease and there are ongoing studies looking at this modality for studying SWS.

Infantile Hemangiomas

Infantile hemangiomas cause multiple potential risks. This infant has a risk of eye disease as well as PHACE syndrome.

How do we begin to approach infants like this early on?

PHACE Syndrome
  • P: Posterior fossa and other brain anomalies
  • H: Large facial hemangiomas
  • A: Arterial anomalies especially CNS anterior circulation
  • C: Cardiac anomalies and aortic coarctation
  • E: Eye defects especially retinal vascular anomalies

PHACE Syndrome is the most common neurocutaneous vascular syndrome and is more common than SWS.  This is present in 30% of infants with large facial hemangiomas (> 5 cm in diameter).

Segments 1 and 3 have a much higher risk (50% or higher) compared to segment 2.

Elements of a PHACE Work-up
  • At risk if facial infantile hemangioma ≥ 5 cm
  • MRI and MRA with contrast
  • Eye exam (even if no perioccular vascular lesions)
  • Cardiac echo (looking for coarctation of the aorta in particular)
  • Consider other tests
    • ENT evaluation if “beard area”
    • Hearing tests (sensory-neural hearing loss independent of ear canal occlusion from a hemangioma)
    • Thyroid functions (occasionally central hypothyroidism is an issue)

The MRI and the MRA need to be individualized by patients due to the need to perform general anesthesia to due these procedures.

 Beard Area Segmental IH

Dermatologists should realize that hemangiomas distributed in the so-called “beard-area  pose a high risk of both airway disease and of PHACE.

Multifocal Hemangiomas

A prospective study by Horii et al, published in 2011, looked at the risk of liver hemangiomas in patients with multiple infantile skin hemangiomas. Abdominal ultrasound was performed on infants 6 months of age or less with 5 or more skin IH. They were compared with 50 infants who had 1-4 IH (control group). 24 (16%) of the 151 infants with 5 or more skin hemangiomas had hepatic hemangiomas (HH) versus 0/50 with less than 5 cutaneous (p = 0.003).

HH are similar to skin IH, in that, not all HH need treatment. More cutaneous IH are associated with a greater overall risk of HH but they are not necessarily more severe. In the prospective study mentioned above, only two of the 24 patients who had HH needed treatment specifically for the HH because they caused symptoms.

Risk of Life-Threatening “Diffuse” Disease

This is the feared complication of liver hemangiomas; whereby the liver is replaced by hemangiomas. In a recent study, the researchers found that the time to presentation for these patients is between a few weeks and 4 months. Symptoms include abdominal distention and poor feeding. If children have this, it is imperative to consider severe hypothyroidism, as it is commonly associated. The hemangioma itself causes a consumptive hypothyroidism by de-iodinating T3.

Do I need to worry about GI bleeding?

Dr Frieden states that most of us were taught that we needed to worry about GI bleeding when we saw patients with multiple hemangiomas. That actually turned out to be false. Large facial such as those seen in PHACE Syndrome, not multifocal IH, is a major risk factor for GI hemangiomas; usually in the small intestine.  In contrast, when you see multiple vascular lesions together with visceral involvement in sites such as the  brain, gastrointestinal tract, kidney, spleen, or adrenal glands this is more likely to be due to other multifocal vascular tumors such as multifocal lymphangioendotheliomatosis, rather than infantile hemangiomas.

Lumbosacral Hemangiomas

Regarding lumbosacral hemangiomas, dermatologists should worry about tethered cord and other anomalies.  In a 2010 prospective study by Drolet et al, the researchers studied 41 infants with IH greater than 2.5 cm midline overlying lumbar or sacral spine. The patients were imaged with ultrasound, MRI or both. The spinal abnormalities that were noted included lipoma or hemangioma and structural malformations of cord/tethered cord. Nearly 50% (21/41) had tethered cord, intraspinal hemangiomas, or both. High-resolution ultrasound was not optimal for evaluation (sensitivity 50%; specificity 78%).

Nevus Simplex (Salmon Patch)

The incidence of the nevus simplex also known as the salmon patch, is quite high (greater than 15%; range 19-82%). How do we know that this isn’t a Port Wine Stain? Clues to this diagnosis include its medial location and very blotchy, less well-demarcated borders.   We know that the classic locations include the glabella, the eyelids as well as the nape. Dr Frieden and colleagues have reported on some cases of extensive nevus simplex that included additional sites such as the scalp (67%), the nose (67%), the lip (60%), lumbosacral skin (56%) and the upper and mid back (15%). In this case series, most of the children were referred to Dr Frieden’s group because of the vascular anomalies. There were no associated abnormalities and imaging was not needed.

“Nevus Simplex Complex”

Infants with widespread nevus simplex were termed “Nevus simplex complex”. The patients had no other conditions. In a literature search, however, prominent NS was found to be associated with some rare syndromes such as:

  • Beckwith-Wiedemann
  • Macrocephaly-Capillary Malformation
  • Ondotodysplasia
  • Roberts-SC phocomelia
  • Nova syndrome

We also know that there is also an increased incidence of NS in infants with IH. Of note, patients with NS respond very well to pulsed dye laser treatment.

In 2011, Sillard et al published on a condition they termed  “Medial Fronto-Facial Capillary Malformation.” This was a retrospective study of 84 children. The distribution was the same as that of nevus simplex complex with “extended forms” in 26%. Neurologic anomalies were found in 9.5% of the patients. The researchers argue that this “looks like salmon patch” but it is not the same; it is darker, wider, slower, and there is less complete resolution.