Facial port-wine stains e clinical stratification
and risks of neuro-ocular involvement*
Sydney Ch’ng, Swee T. Tan *
Centre for the Study & Treatment of Vascular Birthmarks, Wellington Regional Plastic, Maxillofacial & Burns Unit,
Hutt Hospital, Wellington, New Zealand
Received 11 July 2006; accepted 21 May 2007
the skin of the head and neck region. They may affect the underlying subcutaneous tissue
and bone, and extend on to adjacent mucous membrane and conjunctiva. Ipsilateral leptome-
ningeal and ocular choroidal involvement occurs in a small number of cases, with variable clin-
Aim: To analyse a series of consecutive patients with facial port-wine stains referred to our
Vascular Anomalies Centre to (1) stratify their clinical manifestations, and (2) identify the risks
of neurological and/or ocular involvement according to topographic pattern.
Methods: Consecutive patients with facial port-wine stains were taken from our Vascular
Anomalies Database 1996e2006. Port-wine stains were topographically analysed and mapped
to the sensory distribution of division(s) of the trigeminal nerve, cervical plexus, and dorsal
rami of the spinal nerves.
Results: 158 patients were identified. Many of these patients had extension of their facial port-
wine stains or additional separate port-wine stains on their scalp, neck, trunk or limbs. Involve-
ment of adjacent mucosa, conjunctiva, underlying soft tissue and bone was common. Fifteen pa-
tients had associated neurological and/or ocular complications. All had port-wine stains in V1
distribution. Additional involvement of V2 and/or V3, and bilaterality were common. Seven of
the nine patients (78%) with port-wine stains affecting the entire V1 had neurological and/or ocular
involvement. The risk of associated neurological and/or ocular disorder in a patient with partial or
full V1 involvement was 26%, glaucoma and epilepsy being the most common manifestations.
Conclusions: The clinical stratification of facial port-wine stains provides a guide to patient coun-
selling and therapeutic interventions. Port-wine stains affecting the entire V1 distribution predict
strongly for underlying neurological and/or ocular disorders that require on-going ophthalmological
surveillance and/or neurological management. Although the classical Sturge-Weber syndrome
Background: Port-wine stains are capillary malformations that commonly involve
*Parts of this work were presented at the Royal Australasian College of Surgeons’ Annual Scientific Congress, Sydney, Australia, 15e19
* Corresponding author. Address: Wellington Regional Plastic, Maxillofacial & Burns Unit, Hutt Hospital, Private Bag 31907, High Street,
Lower Hutt, New Zealand. Tel.: þ64 4 5709067; fax: þ64 4 5709510.
E-mail address: email@example.com (S.T. Tan).
1748-6815/$ - see front matter ª 2007 Published by Elsevier Ltd on behalf of British Association of Plastic, Reconstructive and Aesthetic Surgeons.
Journal of Plastic, Reconstructive & Aesthetic Surgery (2008) 61, 889e893
encompasses a triad of clinical manifestations, incomplete forms are not uncommon. This neuro-
oculo-cutaneous syndrome is believed to be a result of vascular malformations of associated struc-
tures derived from the neuroectoderm (facial skin, eye, and parieto-occipital region of the brain
and leptomeninges) during the first trimester. However, the pathogenesis of port-wine stains and
Sturge-Weber syndrome remains unclear.
ª 2007 Published by Elsevier Ltd on behalf of British Association of Plastic, Reconstructive and
Port-wine stains (PWS) affect 0.3% of live births.1They are
congenital dermal capillary malformations that have a pre-
dilection for the head and neck region.1,2The majority of
facial PWS are macular discolourations that enlarge with
the growth of the child, and darken with time. A small num-
ber of cases are associated with vascular malformations of
the ipsilateral leptomeninges and/or the eye.
The triad of facial PWS, parieto-occipital leptomenin-
geal and ocular choroidal vascular malformations constitute
the classical Sturge-Weber syndrome (SWS). However, the
clinical manifestations of SWS are highly variable, with
absent or varying neurological and/or ocular disorders in
some cases.3Along with neurofibromatosis type I and tuber-
ous sclerosis, SWS is one of the most common phakomatoses
(Gk. phakos, meaning birthmark).4Nonetheless, SWS is a
fairly uncommon condition. Its precise incidence is un-
known and the biological basis remains poorly understood.5
We studied a series of consecutive patients with facial
PWS referred to our Vascular Anomalies Centre 1996e2006,
to (1) stratify their clinical manifestations, and (2) identify
the risks of neuro-ocular involvement.
Consecutive patients with facial PWS were taken from our
Vascular Anomalies Database 1996e2006. PWS were topo-
graphically analysed based on clinical records and photo-
graphs obtained prior to treatment, and mapped to the
sensory distribution of division(s) of the trigeminal nerve,
cervical plexus, and dorsal rami of the spinal nerves.
Diagnosis of neuro-ocular involvement in facial PWS
cases was based on clinical findings. Patients diagnosed
with neuro-ocular disorder were jointly managed with
a paediatrician and an ophthalmologist. In patients consid-
ered to be at increased risk of extracutaneous disorder, as
discussed below, the assessment of intra-ocular pressure
was undertaken at 6-monthly intervals until adolescence
and annually thereafter. In infants and young children,
intra-ocular pressure measurement was performed at in-
duction of general anaesthesia prior to laser treatment of
PWS. Patients with glaucoma underwent closer surveillance
depending on progress and control of the disease. We do
not carry out routine brain imaging of asymptomatic
patients although many patients had already been investi-
gated with brain CTor MRI scanning by their physicians prior
to referral to our Centre.
One hundred and fifty-eight patients were identified. A
large number of these patients had extensions of their
facial PWS or additional separate PWS on their scalp, neck,
trunk or limbs (Table 1). Extracutaneous involvement of ad-
jacent mucosa, conjunctiva, underlying soft tissue and
bone was common (Table 1).
Fifteen patients had associated neurological and/or
ocular complications. All 15 patients had PWS in V1
distribution, including the entire V1 dermatome in seven.
The PWS was confined solely to V1 in four patients, whilst
additional involvement of V2 and/or V3 was seen in the
remainder. Bilateral distribution was present in seven
Seven of the nine patients (78%) with PWS occupying
the entire V1 had neurological and/or ocular involve-
ment. The risk of associated neurological and/or ocular
disorder in a patient with partial or full V1 involvement
was 26% (Table 2).
Of the 10 patients with glaucoma, two underwent
trabeculotomy, and one had a Molteno valve implant after
failed medical treatment, and the remainder were satis-
factorily controlled with medical therapy. Four patients
had ocular choroidal vascular malformation detected on
retinoscopy. Partial visual loss and/or visual field defects
were observed in half of these patients (Table 2).
Focal motor seizures were the most common type of
epilepsy encountered, although grand mal and absence
seizures occurred in one patient each (Table 2).
In 1879, Sturge presented to the Clinical Society of London
a 6-year-old girl with a vascular anomaly on the right side of
her face, buphthalmos and left-sided focal seizures. He
predicted a ‘port-wine mark’ on the surface of the patient’s
right cerebral hemisphere. More than two decades later,
involvement of facial PWS in 158 patients
of cervical spinal nerves
Soft tissue hypertrophy
890 S. Ch’ng, S.T. Tan
Weber6described this entity as a syndrome and published
a radiograph of intracranial calcification commonly seen
in this syndrome. Although the classical description of
Sturge-Weber syndrome includes vascular malformations
of the upper facial dermis, ocular choroids and leptome-
ninges, many lesser forms exist depending on the extent
of vascular maldevelopment in the cephalic neuroectoderm.
Nine per cent of our patients with facial PWS have an
associated neurological and/or ocular disorder. This is
consistent with the incidence of 8e10% reported in the
literature.7Our findings confirm that patients without V1
involvement are not at risk of neurological and/or ocular
complications.2,8Our study underscores the extremely
high risk (78%) of neurological and/or ocular involvement
when a PWS affects the entire V1 distribution. Additional
involvement of V2 and/or V3, and bilaterality in these pa-
tients are common, as seen in our series and other pub-
Focal motor seizures are the most common manifestation in
PWS patients with neurological disorders, usually present
by the age of 3 years.7Many patients have intractable sei-
zures, which may eventually lead to motor deficits and
mental decline.11The role of prophylactic anti-epileptic
and low dose aspirin medication remains controversial.3
Phenytoin-induced gingival hyperthrophy may aggravate
periodontal and dental problems already caused by associ-
ated maxillary or mandibular overgrowth. Subnormal intel-
ligence is reported in half of the patients with neurological
involvement, and a third of these have severe mental retar-
dation.12Attention-deficit hyperactivity disorder is another
known co-morbidity8as observed in one of our patients.
Glaucoma occurs in two-thirds of our facial PWS patients
with ocular complications. An incidence of 30e60% has
been reported by others.3,13The onset of glaucoma is bi-
modal. Early-onset (up to 4 years of age) glaucoma causes
buphthalmos, and is typically due to abnormalities in the
anterior chamber angle and outflow tract (Figure 1). Late-
onset glaucoma may not occur until adolescence.14It
causes little or no eye enlargement, and is usually
secondary to raised episcleral venous pressure.7Since glau-
coma may develop insidiously, and treatment should be
instituted before symptoms occur, long term regular intra-
ocular pressure measurements are mandatory in susceptible
patients.3Another characteristic ocular abnormality is dif-
fuse choroidal vascular malformation. These lesions cause
progressive secondary changes in the overlying retina such
as retinal pigment degeneration, fibrous metaplasia and
cystic retinal degeneration leading to visual loss and visual
field defects. Continuous exudation from the malformation
may also lead to retinal detachment.15
The pathogenesis of PWS remains unclear. There is pro-
gressive vascular ectasia without proliferation but there is
no decrease in vessel wall components (e.g. factor VIII,
fibronectin and collagen) to account for decreased mural
support and secondary dilatation.16A study with S100 im-
munoperoxidase staining reveals decreased nerve density
in the vessel wall. It has been proposed that this lack of
sympathetic innervation may result in the failure to regu-
SWS occurs sporadically and, like PWS, affects males and
females equally. It has been proposed that it is the result of
logical and/or ocular involvement
Clinical manifestations in 15 patients with neuro-
(including one case of macrocephaly)
Visual loss ? visual field defect
sided congenital glaucoma with buphthalmos as well as dilata-
tion and tortuosity of episcleral vessels.
An SWS patient with extensive facial PWS and left-
Facial port-wine stains 891
a somatic mutation in the affected areas.3The combination
of facial PWS, leptomeningeal and ocular choroidal vascular
malformations is believed to have resulted from vascular
maldevelopment between the fourth and eighth weeks of
gestation.18Several theories have been proposed for the
pathogenesis of this neuro-oculo-cutaneous syndrome.1,3
The proximity of the ectoderm destined to form the upper
facial skin, the part of the neural tube that forms the pari-
eto-occipital brain and leptomeninges, and the optic vesi-
cle during this stage in embryogenesis could explain the
triad of clinical manifestations of SWS (Figure 2). The vari-
able degree of involvement of each of these components
may account for its variable expressibility19,20. Failure of
development of the superficial cortical veins and their sub-
sequent recurrent thrombosis may result in re-direction of
blood through the overlying leptomeninges, and into the
deep venous system. Despite this re-direction, there is in-
sufficient venous drainage, leading to progressive venous
stasis and vessel dilatation resulting in chronic ischaemia21.
Hypoxic changes result in progressive cerebral atrophy and
calcification, and functional impairments manifest as
seizures, mental deterioration, and focal neurological defi-
cits (Figure 3).12
1. Comi AM. Pathophysiology of Sturge-Weber syndrome. J Child
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3. Baselga E. Sturge-Weber syndrome. Semin Cutan Med Surg
4. Roach ES. Neurocutaneous syndrome. Pediatr Clin North Am
5. Kotagal P, Rothner AD. Epilepsy in the setting of neurocutane-
ous syndromes. Epilepsia 1993;34(Suppl.):S71e8.
6. Netter F. Atlas of Human Anatomy. New Jersey: Ciba-Geigy
Corporation; 1994. p. 18.
7. Thomas-Sohl K, Vaslow D, Maria B. Sturge-Weber syndrome:
a review. Pediatr Neurol 2004;30:303e10.
8. Stevenson RS, Thomson HG, Morin JD. Unrecognised ocular
problems associated with port-wine stains of the face in chil-
dren. Can Med Assoc J 1974;111:953e5.
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ogous to that of a chick embryo. The primitive superficial vas-
cular plexus in this chick embryo demonstrates the proximity of
the vascular structures draining the optic vesicle to the future
parietal-occipital cortex and the future upper face (highlighted
area). (Reproduced with permission from Sabin F, Carnegie
Contrib Embryol 1917;17:80e93.)
Early human vascular development is closely anal-
cation and atrophy of the left occipital cortex with prominent
sulci and dilated fourth ventricle in a patient with SWS.
An axial CT scan demonstrating dystrophic calcifi-
892 S. Ch’ng, S.T. Tan
15. Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of Download full-text
the Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus
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without facial nevus. Neurology 1987;37:1063e4.
19. Maiuri F, Gangemi M, Iaconetta G, et al. Sturge-Weber disease
without facial nevus. J Neurosurg Sci 1989;33:215e8.
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Improved labelling of sentinel nodes
Preoperative cutaneous lymphoscintigraphy is used rou-
tinely prior to sentinel node biopsy. The skin marking serves
as a guide, allowing the sentinel node to be more easily
localised by the intraoperative probe, improving the chan-
ces of accurately locating the sentinel node and minimising
When a skin mark is drawn in the moist environment
of the groin or axilla it tends to duplicate on the opposing
skin fold, particularly in overweight or obese patients. If
the node is marked with an ‘X’, which has the same
appearance in mirror image, it is not always obvious
which is the original mark (Figure 1).
The letter N is asymmetrical so does not look the same
in mirror image. We have found that by marking the
sentinel node with the letter ‘N’ e for node perhaps, it is
indisputable which mark is the original (Figure 2).
We commend this as a helpful adjunct to nodal
1. Jansen L, Nieweg OE, Peterse JL, et al. Reliability of sentinel
lymph node biopsy for staging melanoma. Br J Surg April
Mersey Regional Plastic Surgery Centre,
Whiston Hospital, Liverpool, UK
E-mail address: firstname.lastname@example.org
ª 2008 Published by Elsevier Ltd on behalf of British Association
of Plastic, Reconstructive and Aesthetic Surgeons.
Original and duplicate marks not easily
Marking using an "N" eliminates potential
Facial port-wine stains 893