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Vascular malformations are structural abnormalitiescomprising collections of dilated abnormal vessels,

present at birth, growing only in proportion to the growthof the child and with no tendency to resolve. As such theycan be differentiated from haemangiomas which aretumours of endothelial cells and which grow out ofproportion to the growth of the infant and subsequentlyundergo resolution over the early years of life.

Vascular malformations can be subdivided according totheir component vessels into capillary, venous, arterial andlymphatic malformations. Many mixed forms exist fromarteriovenous malformations to complex conditions withelements of all types.

Capillary malformations, previously called "port winestains", are congenital lesions comprising dilated, thin-walled capillaries located in the papillary and upperreticular dermis. These are well known as isolated faciallesions but they may occur in all areas of the body and theymay occur in association with other types of vascularmalformation.

This study was designed to review some clinical features ofa group of patients with capillary malformations studied atThe Children’s Hospital at Westmead.

M E T H O D S

There is a Vascular Birthmarks Study Group at theChildren’s Hospital at Westmead. Details of all patientsreviewed by this group and also other patients with vascularmalformations presenting to the author, a paediatricdermatologist, are collected on a data base. The featuresnoted are the name and sex of the patient, the type ofmalformation, the site of the lesion, the particular distrib-ution of facial lesions, the presence of glaucoma and brainimaging findings supporting a diagnosis of Sturge Webersyndrome.

The lesion types are classified into the following groups:capillary, venous, lymphatic, arterial, arteriovenous,capillary-venous, capillary-lymphatic, venous-lymphatic,capillary-venous-lymphatic, capillary-venous-(+/-lymphatic) with limb asymmetry, arteriovenous, capillary-arteriovenous, capillary-arteriovenous-lymphatic,arteriovenous-lymphatic and cutis marmorata telang-iectatica congenita.

The facial distribution of capillary malformation isdefined according to convention into the fields of the distri-bution of the three divisions of the fifth cranial nerve(trigeminal nerve) into V1, V2 and V3 patterns. Bilateralinvolvement was noted when present.

All patients with V1 involvement had brain imagingstudies performed with magnetic resonance imaging (MRI),or, in the earlier patients, with computerised tomography(CT). These patients also had a formal ophthalmologicalexamination.

Address Correspondence to: Dr. Maureen Rogers, Suite 19, Children’sHospital Medical Centre, Hainsworth Street, Westmead, NSW 2145Australia. Phone: +61 2 9687 0733. Facsimile: +61 2 9806 0060 Email: MaureenR@chw.edu.au

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A R T I C L E

CAPILLARYMALFORMATIONS - A REVIEW OF 395 CASES

M ROGERS

Head, Department of Dermatology,The Children’s Hospital at Westmead,Westmead, Sydney, NSW Australia.

395 cases of capillary malformation are

reviewed with emphasis on their distribution,

association with other types of vascular

malformation and, in the case of facial lesions,

association with ocular and neurological

abnormalities. Lesions occurred more

commonly in females. In 29% of cases the

malformation was associated with another type

of vascular malformation.

The commonest site of involvement of pure

capillary malformations was the head and

neck area but in over 50% of cases other

areas were involved.

The face was involved in 130 cases with

occurrence in the distribution of the first

division of the trigeminal nerve in 57 cases.

Glaucoma was present in 14/57 and clinical

and neuroimaging findings of Sturge Weber

syndrome in 15/57.

ABSTRACTOriginalpp22 - 26

R E S U LT S

There were 602 patients on the data base. Capillarymalformations were present in 395 patients.

Of the 395 patients with capillary malformations 242(61%) were female and 153 (39%) male.

291 patients (71%) had capillary malformations alone. Inthe remaining 104 cases the capillary malformationoccurred in association with one or more other type ofvascular malformation. The various patterns are noted inTable 1.

In the 291 patients with capillary malformations alonethe head and neck area was involved in 143 cases (49%). In134 the head and neck was the only area involved and inthe remaining 9 cases the head and neck area was part of awidespread distribution of lesions. The distribution of allof the pure capillary malformations is noted in Table 2.

Facial involvement was present in 124 of these 141 cases(88%) of pure capillary malformation involving the headand neck area. In the remainder of cases the involvementwas of the scalp or neck. Facial involvement was alsopresent in a further 6 patients in whom the capillarymalformation occurred in the presence of other types ofvascular malformation involving the face or other areas.The distribution of facial lesions in the 130 cases in whichinvolvement of this area occurred is summarised in Table 3.

A capillary malformation in the distribution of the firstdivision of the trigeminal nerve (V1), unilaterally or bilat-erally occurred in 57 cases (see Table 3). In all of thesecases a detailed ophthalmological examination was under-taken and brain imaging studies were performed, withMRI in most cases or with CT scan in some of the earliercases.

Glaucoma occurred in 14/57 of cases (24%). In all ofthese there was involvement of the V2 area as well as theV1 area. Abnormal brain imaging findings indicatingSturge Weber syndrome were demonstrated in 15/57 ofcases (26%). In 5 patients both glaucoma and positivebrain imaging findings were present. In 10 cases there werepositive brain imaging findings without glaucoma and in 9cases glaucoma was present in the absence of abnormalneuroimaging.

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Capillary malformations

Table 1. Patterns of vascular malformation in 395 patients withcapillary malformations.

SITE n

Head and neck 134Lower limb 84Upper limb 20Trunk 19Anogenital 3Multiple sites 61

Table 2. Sites of pure capillary malformations in 291 patients.

TYPE OF MALFORMATION n

Capillary alone 291Capillary-venous 35Capillary-lymphatic 32Capillary-venous-lymphatic 9Capillary-venous-(+/- lymphatic) with limb hypertrophy 16Capillary-arteriovenous 10Capillary-arteriovenous-lymphatic 2

Table 3. Distribution of facial capillary malformations.

DISTRIBUTION OF FACIAL LESIONS n

Unilateral V1 alone 21Unilateral V2 alone 45Unilateral V3 alone 12Unilateral V1 and V2 12Unilateral V1,V2 and V3 11Unilateral V2 and V3 12Bilateral V1 4Bilateral V2 2Bilateral V3 1Bilateral V1 and V2 1Bilateral V1,V2 and V3 5Bilateral V1, unilateral V2 and V3 2Bilateral V2, unilateral V1 and V3 1Bilateral V3, unilateral V2 1

DISTRIBUTION OF FACIAL LESION n

Unilateral V1 alone 2

Bilateral VI alone 2

Unilateral V1 and V2 3

Unilateral VI,V2 and V3 6

Bilateral VI,V2 and V3 2

Table 4. Distribution of facial capillary malformations in patientswith neurological and neuroimaging features of Sturge Webersyndrome.

In all of the patients with abnormal brain imaging therewere seizures and some degree of developmental delay,although the severity of the latter was very variable.

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M Rogers

Figure 1. Extensive capillary malformation on the face involving theV1 area bilaterally and V2 and V3 areas on the right side.The infanthad Sturge Weber syndrome with glaucoma involving the right eye,seizures and developmental delay.

Figure 3. Capillary malformation on one side of the back,extending to the spine.

Figure 4. Straight edged capillary malformation overlying a largemacrocystic lymphatic malformation.

Figure 2.Extensive capillary malformations involving trunk and limbs.

D I S C U S S I O N

Capillary malformations are the commonestof the vascular malformations and often occuras isolated lesions, of cosmetic significance only.

These are best known as facial lesions. Whenthe lesions are limited to the distribution of thesecond (V2) and or third (V3) divisions of thefifth cranial nerve there are no neurological orophthalmological associations.

Sturge Weber syndrome (SWS) in its classic

form consists of leptomeningeal vascular

malformations, underlying cortical atrophy and

calcification and an ipsilateral capillary malfor-

mation involving the V1 distribution and ocular

abnormalities, particularly glaucoma and

choroidal vascular malformations.1 The major

clinical neurological features are seizures, often

very difficult to control, and mental retardation.

The cutaneous lesions may be small and subtle

but are more frequently extensive and

sometimes bilateral (Figure 1). This was our

experience, with lesions involving all three

divisions, unilaterally or bilaterally in 8/15

patients with neurological and neuroimaging

features of SWS.

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Capillary malformations

Figure 5. Extensive capillary-lymphatic malformations.The bulkiness of the buttocksand the looseness of tissue on the limbs are clinical markers of the lymphaticcomponent.

Figure 6. Extensive involvement of the mesentery and bowel with lymphatic malfor-mation in the patient shown in figure 5.

Figure 7. Capillary-venous malformation with limb hypertrophy (Klippel Trenaunaysyndrome) involving the left upper and lower limbs.

Figure 8. Capillary-venous-lymphatic malformationwith limb hypertrophy (Klippel Trenaunay syndrome)involving the left lower limb.

The other features of SWS may occur without ocular

abnormalities and glaucoma and choroidal vascular

abnormalities may occur in patients with the capillary

malformation in the V1 division in the absence of neuro-

logical and neuroimaging findings. The ophthalmological

literature stresses that in most patients with ocular abnor-

malities both eyelids are involved with the stain involving

both V1 and V2 divisions.2

Glaucoma occurred in 14 cases in our series, in 9 cases in

the absence of neurological and neuroimaging findings of

SWS. In all 14 patients there was involvement of the V2 as

well as the V1 division.

Capillary malformations often occur in areas other than

the head and neck (Figure 2). In our series involvement of

areas away from the head and neck occurred in 157/291

(54%) of the pure capillary malformations (Table 2).

A sacral capillary malformation may be a marker for

spinal dysraphism and a tethered spinal cord.3 It is

important to screen infants with lesions in this site.

Ultrasound is a safisfactory screening measure in infants

under 6 months of age4; after this age magnetic resonance

imaging is required. As this latter procedure would require

a general anaesthetic in young children early ultrasound

screening should be performed if possible.

Cobb syndrome refers to the association of a capillary

malformation occurring in an apparently dermatomal

distribution on the posterior thoracic area (Figure 3) with a

vascular malformation of the corresponding area of the

spinal cord.

Capillary malformations may be one of the cutaneous

features of Proteus syndrome, in association with epidermal

naevi, soft tissue tumours, asymmetric macrodactyly and

other ectodermal and mesodermal anomalies.

Capillary malformations occur in association with all the

other types of vascular malformation and in 102/395 (26%)

of the cases in this series the capillary malformation was

part of a combined vascular malformation. These lesions

often involved areas other than the head and neck,

especially in the case of capillary-venous, capillary-

lymphatic and capillary-venous-lymphatic malformations.

When capillary malformations occur over lymphatic

malformations they often have a peculiar straight-edged,

segmental pattern (Figure 4). When a lesion of this config-

uration occurs ultrasound should be performed to identify

an underlying lymphatic malformation. Extensive

cutaneous capillary-lymphatic malformations (Figure 5) may

be associated with intra-abdominal lymphatic (Figure 6) or

mixed vascular malformations and these patients should all

have an abdominal ultrasound performed in early infancy.

Capillary malformations may be a part of complex

combined vascular malformations of the limbs. These are

historically named Klippel-Trenaunay syndrome (KTS)

and Parkes-Weber (PWS) syndrome but are better defined

according to their component features as capillary-venous

+/- lymphatic malformation with limb asymmetry (KTS)

(Figures 7,8) and capillary-arteriovenous +/- lymphatic

malformation with limb asymmetry (PWS). Limb

asymmetry was present in 16 of our total of 395 patients.

In the situation of a capillary malformation occurring on

the cheek it is important to look for any bulkiness which

could suggest an underlying arteriovenous malformation.

The capillary malformation is often less extensive than the

usual V2-distributed pure capillary malformation with a

less well-defined edge and may be more red than purple in

colour. An arteriovenous malformation in this area can lead

to major haemorrhage with loss of teeth, either sponta-

neously or with extraction. An ultrasound should be

performed in all cases where there is any suspicion of such

an association.

Widespread scattered small capillary arteriovenous

malformations may be associated with intracerebral arteri-

ovenous malformations.5 The arteriovenous componemt of

the cutaneous lesions may be clinically subtle and be picked

up only on ultrasound performed because of clinical

suspicion. Such an association should be suspected when

the scattered small capillary malformations are redder and

warmer than classical pure capillary lesions.

In summary the spectrum of capillary malformations

extends well beyond the simple facial "port wine stain".

These are lesions which may have significant associations

and careful clinical examination and appropriate imaging

studies are important in their assessment.

R E F E R E N C E S

1. Esterly NB. Cutaneous hemangiomas, vascular stains and malformations and

associated syndromes. Curr Probl Pediatr 1995;3:65-108.

2. Stevenson RF, Morin JD. Ocular findings in nevus flammeus. Can J Ophthalmol

1975;10:136-39.

3. Harris HW, Miller F. Midline cutaneous and spinal defects. Midline cutaneous

abnormalities associated with occult spinal disorders. Arch Dermatol

1996;112:1724-28.

4. Ben-Amiati D, Davidson S, Schwartz M et al. Sacral nevus flammeus simplex:

The role of imaging. Pediatr Dermatol 2000;17:469-71.

5. Leblanc R, Melanson D, Wilkinson RD. Hereditary neurocutaneous

angiomatosis. J Neurosurg 1996;85:1135-42. �

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M Rogers