Chapter 34: Port-wine Stains

INTRODUCTION

Port-wine stains (PWS) are low-flow capillary malformations. They represent the most common type of vascular malformations. Any area of the body can be affected. However, the head and neck areas are most commonly affected.

EPIDEMIOLOGY

Incidence: 3 per 1,000 newborns

Age: present at birth in the majority of patients; rarely appear in adolescence or adulthood

Sex: no sex predilection

Race: less common in Asians and African Americans

Associated syndromes: PWS can be a manifestation of several syndromes including Sturge–Weber syndrome, Klippel–Trenaunay syndrome, Proteus syndrome, and phakomatosis pigmentovascularis

PHYSICAL EXAMINATION

PWS presents at birth as light pink, well-demarcated macular lesions and patches usually in a segmental distribution. They can transform with age into hypertrophic dark red and/or purpuric plaques with nodularity. PWS involves the face most commonly along the trigeminal nerve distribution: ophthalmic branch V1 (upper eyelid and forehead), maxillary branch V2 (upper lip, cheek, lower eyelid), and mandibular branch V3.

DIFFERENTIAL DIAGNOSIS

PWS exhibits characteristic clinical features and is seldom misdiagnosed. It can be confused with the macular stage of hemangioma at birth.

DERMATOPATHOLOGY

Multiple dilated thin-walled vessels in the papillary and reticular dermis.

ANCILLARY TESTS

• The parents should be counseled regarding the possibility of Sturge–Weber syndrome (SWS) in lesions located in a facial V1 or V2 dermatomal distribution. SWS is characterized by the presence of facial PWS with ipsilateral ocular and leptomeningeal anomalies. Ten to fifteen percent of patients with PWS in the V1 distribution will have SWS. Patients with bilateral PWS have even a higher risk of SWS. An ophthalmologic examination to rule out glaucoma and cataract formation with continued followup is necessary for these patients. A head computed tomography (CT) or magnetic resonance imaging (MRI) should be obtained to rule out brain involvement that could affect mental development and result in seizures.

• PWS overlying the spine can be associated with spinal anomaly such as spinal dysraphism or tethered spinal cord. Neurologic evaluation and appropriate imaging studies are recommended.

• Large extremity PWS should raise the consideration of Klippel—Trenaunay syndrome, characterized by capillaryvenous malformations or capillary-lymphatic-venous malformations with hypertrophy of the affected extremity. Leg girth and length should be measured and followed over time.

COURSE

PWS grows proportionally with the patient and gradually thickens and darkens in color from pink to dark red to deep purple. Eleven percent may develop nodularity and 24% may develop pyogenic granulomas. PWS may be associated with hypertrophy of underlying soft tissue and bone, particularly in Sturge–Weber syndrome and Klippel–Trenaunay syndrome.

KEY CONSULTATIVE QUESTIONS

• Onset of lesion

• Associated clinical findings

• Is the child meeting developmental milestones?

• Has ...