Facial port-wine stains–Clinical stratification and risks of neuro-ocular involvement

Centre for Study & Treatment of Vascular Birthmarks, Wellington Regional Plastic, Maxillofacial & Burns Unit, Hutt Hospital, Wellington, New Zealand.
Journal of Plastic Reconstructive & Aesthetic Surgery (Impact Factor: 1.42). 07/2007; 61(8):889-93. DOI: 10.1016/j.bjps.2007.05.011
Source: PubMed


Port-wine stains are capillary malformations that commonly involve 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 leptomeningeal and ocular choroidal involvement occurs in a small number of cases, with variable clinical manifestations.
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.
Consecutive patients with facial port-wine stains were taken from our Vascular Anomalies Database 1996-2006. 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.
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. Involvement of adjacent mucosa, conjunctiva, underlying soft tissue and bone was common. Fifteen patients 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.
The clinical stratification of facial port-wine stains provides a guide to patient counselling 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 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 structures 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.

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Available from: Swee T Tan, Apr 06, 2014

  • No preview · Article · Jan 2012 · Pediatric Dermatology
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    ABSTRACT: Sturge-Weber syndrome (SWS) is a sporadic congenital neurooculocutaneous disorder that may present with glaucoma and vascular malformations of the conjunctiva, episclera, choroid and retina. We report a case of localized choroidal haemangioma associated with SWS Type I. A 26-year-old male with a port-wine stain birthmark on right side of the face was admitted to our clinic with complaints of photophobia, pain, and blurred vision in his right eye. Anterior segment examination of the right eye revealed dilatation and tortuosity of conjunctival vessels. Snellen visual acuity was 0.4 (20/50) and intraocular pressure - normal. Fluorescein angiography demonstrated a small- spotted hyperfluorescent mass nasal to the optic disc and exudative retinal detachment in the central zone. Testing of the left eye found no abnormalities. Brain CT scans showed bilateral tram-track calcifications. This case report arouses certain clinical interest because of its rare incidence, continued asymptomatic development, and delayed diagnosis only after the presentation of exudative retinal detachment with subsequent visual deficit. Neuroophthalmological monitoring of patients with SWS may be useful for early detection of ocular involvement before the appearance of serious visual complications.
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    ABSTRACT: Sturge-Weber syndrome (SWS) is frequently associated with neurologic complications such as seizures, so diagnosing this condition has important implications for patient management. The purpose of this study was to report unusual neuroimaging findings in patients with facial port-wine stain (PWS) and clinically suspected SWS. Cranial MR imaging was reviewed for all children with facial port-wine stain (PWS) involving the upper face and eyelids who were referred to Great Ormond Street Hospital between 2003 and 2007 for investigation of suspected SWS. Patients were excluded from further analysis if the imaging findings were normal on initial and subsequent scans and the subject remained free of neurologic disease, or if the imaging showed the well-recognized pattern of exclusively supratentorial pial enhancement representing the pial angioma of SWS. For the remaining patients, the neurologic, dermatologic, and ophthalmologic records were examined and all available imaging was reviewed by a neuroradiologist. We documented the presence and distribution of pial enhancement; corroborative features of SWS, such as atrophy, calcification, choroid plexus changes, and ocular abnormalities; and all other intracranial abnormalities. Of the 62 patients referred for assessment, imaging findings were considered typical of SWS in 32 (52%) and were normal or showed abnormalities attributable to an unrelated pathology in 20 (32%). Of the remaining 10 patients, in 7 (11%), there was evidence of a pial angioma in an unusual distribution involving infratentorial structures, with the angioma in 1 patient being diagnosed at postmortem only; in 2 (3%), there were imaging abnormalities with some features in common with typical SWS, such as subcortical calcification, but with no evidence of pial enhancement; in 1 (1.6%), the initial MR imaging finding was normal, but repeat imaging subsequently revealed pial enhancement. Involvement of infratentorial structures is common but may be relatively subtle and should be actively sought. Cases in which there are certain patterns of imaging abnormalities but an apparent absence of supratentorial pial enhancement on MR imaging may represent formes frustes of SWS; visualization of pial angiomatosis may also be delayed until later in childhood than expected.
    Preview · Article · Feb 2009 · American Journal of Neuroradiology
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