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

Abstract

Background: 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.

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 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.

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. 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.

Conclusions: 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.