Introduction¹

Synonyms: PWS, naevus flammeus

Pathogenesis

The condition results from abnormal ectasia (dilation) of papillary dermal capillaries and post-capillary venules. Evidence suggests that a deficiency in perivascular nervous tissue results in reduction in vascular tone, leading to dilation. There appear to be two sub-types which differ in morphology. Type 1 (superficial, tortuous, dilated end-capillary loops in the superficial papillary dermis) appears to be more sensitive to laser therapy than type 2 (ectatic vessels in the superficial horizontal vascular plexus).

Distribution

Most involve the head and the neck. On the face, 45% are restricted to just one of the three regions of the trigeminal nerve, with 55% crossing to more than one area. Those that do are often bilateral.

Appearance¹

Natural history

• The lesion remains present for life and has no tendency toward involution.
• In early life, they are flat and usually clearly demarcated. The colour does not correlate with depth or diameter of capillaries. Blanching on pressure is variable. They are usually unilateral with a clear demarcation at the midline.
• The lesions may change from pink in infancy to red in early adulthood to deep purple during middle age.
• Nodular vascular lesions may develop, usually in adulthood.
• Pyogenic granulomas with bleeding may develop, even in childhood.
• Later in life, the vasculature dilates and the lesions may evolve into a raised, thickened plaque with a cobblestone contour. This may occur in up to 65% of facial lesions during adulthood.
• Lobulated capillary haemangiomas (pyogenic granulomas) may form, especially with intra-oral lesions.

Differential diagnosis¹

The diagnosis of a port-wine stain is usually clear but there may be concern that it is not an isolated lesion but part of a syndrome (see 'Associated diseases', below). Other conditions to consider include:

Infantile haemangioma

This is a benign vascular neoplasm. Occasionally they may cause pressure effects on adjacent vital structures, ulcerate, bleed or cause high-output cardiac failure.

Proteus syndrome

This is a disorder in which irregular asymmetric overgrowth of multiple body tissues occur. Severe cases involve large areas of the body (the 'Elephant Man' is the most famous patient so suffer from this condition) but more localised forms can resemble capillary malformations.

Rubinstein-Taybi syndrome

There are broad thumbs and big toes, short stature, mental retardation and capillary naevus of the forehead or nape in over 50% of patients.

Morphea²

Localised morphea may mimic an acquired port-wine stain.

Associated diseases¹

Glaucoma

There is an association between port-wine stains involving the eyelids and glaucoma. Glaucoma may occur in about 10% of facial port-wine stains but the figure rises to between a quarter and a half when both the ophthalmic and maxillary divisions are involved.

Spinal abnormalities

Neural tube defects and tethered spinal cord may be associated conditions. Lumbar skin changes such as acrochordons (skin tags), an abnormal tuft of hair (fawn's tail) and lipomas have been observed.

Sturge-Weber syndrome

Port-wine stain, in association with ocular intracranial angiomas, causes blindness, focal epilepsy, hemiplegia or mental retardation - Sturge-Weber syndrome.³ The lesion is clearly unilateral and in the trigeminal area, usually in the ophthalmic division. There are ipsilateral capillary malformations on the leptomeninges and cerebral cortex. The condition may be bilateral.

Cobb's syndrome

This includes cutaneomeningospinal angiomatosis. A lesion in the skin overlying the spine is associated with vascular malformations in the underlying spinal meninges. There may be pressure on the spinal cord or nerves, bone erosion and subarachnoid haemorrhage.

Klippel-Trénaunay syndrome⁴

This is also known as angio-osteo-hypertrophy syndrome.⁵ It is association of a port-wine stain, varicose veins and hypertrophy of a limb. The lower limbs are involved in 95% of patients and it is unilateral in 85%. Most babies are asymptomatic at birth but have problems later in childhood. Complications include:

• Varicose veins with venous thrombosis and pulmonary embolism.
• Bleeding from varices, the rectum, or the bladder.
• Skin ulceration.
• Increased sweating overlying the lesion.
• Leg circumference or length discrepancy with resultant scoliosis.
• Oedema and recurrent infections.

Parkes Weber's syndrome

This consists of arteriovenous (AV) malformation in addition to those of the Klippel-Trénaunay syndrome. AV fistulae are usually diffuse and ablation is difficult. Most children present in childhood with an enlarged, warm extremity. The prognosis is worse than with Klippel-Trénaunay syndrome.

Wyburn-Mason's syndrome

This is also called unilateral retinocephalic syndrome and also Bonnet-Dechaume-Blanc syndrome. There are facial port wine stains with unilateral AV malformation of the retina and the intracranial optic nerves. Lesions may occur anywhere on the face and there may be facial hypertrophy or occasional involvement of the optic chiasm, the hypothalamus, the midbrain and the basal ganglia, with associated mental retardation or neurological features.

Investigations¹

• If Sturge-Weber syndrome is suspected, MRI scan of the brain is required. In very early life, results may give false reassurance.
• Photoacoustic imaging can be used to give information relating to the depth of the lesion and its vasculature.⁶ Cerebral angiography is also occasionally used.
• Optical coherence tomography (a technique which acquires optical signals and can identify very small structures just under the surface of the skin) has been adopted for the diagnosis of port-wine stains.⁷
• There is no consensus as to whether patients with isolated capillary malformations require imaging to exclude cerebrovascular abnormalities.
• Regular ophthalmic checks to exclude glaucoma should be carried out in the first three years of life.

Management¹

Refer as young as possible, usually around one year old, to a centre which has the laser and anaesthetic facilities. Some centres may treat earlier. The British Association of Dermatologists recommends early treatment:⁸

• The tunable pulsed dye laser (PDL) emits light at 585 nm which is preferentially absorbed by haemoglobin.
• The length of the pulse of light (450 microseconds) is just long enough to heat small vessels but not the surrounding tissue.
• This results in destruction of the blood vessels without any scarring. The results are best in babies or infants.

Current research is looking at the added efficacy of PDL with topical imiquimod.⁹, exogenous heat or intravenous porphyrin derivatives.¹

PDL laser is sometimes used in conjunction with a potassium titanyl phosphate (KTP) laser.

• Treatment is painful and, in small children, requires a general anaesthetic but small infants have smaller areas to be treated (before they have grown). Local anaesthetic is helpful.¹⁰
• The treatment is tedious, time-consuming and expensive and may not be universally available without charge on the NHS.
• Several treatments may be required, spaced at 2-3 monthly intervals; postoperatively, patients are usually advised to avoid the sun, avoid injury and use an emollient.
• One study recommended a 'double-pass' technique for patients with capillary malformations resistant to previous laser therapy.¹¹
• Another study reported that laser speckle imaging (a method of assessing the degree of scatter of laser beams after they have come into contact with tissue) after laser treatment showed areas of incomplete photocoagulation in some patients. The authors recommended immediate re-coagulation in these cases.¹²
• Surgical excision with or without cosmetic reconstruction may be required for lesions resistant to laser therapy.¹³

Cosmetic camouflage can be useful in hiding the area. It may be prescribed on an FP10. Tattooing of the area with skin-coloured pigment is occasionally carried out.

Complications

Hyperpigmentation is usual in treated areas but this is transient. Permanent hypopigmentation may occur in treated areas. Pyogenic granuloma in treated areas has been described.¹⁴

It has been said that failure to treat can result in considerable psychological morbidity¹⁵ but this has been challenged and one study suggested that further research is required.¹⁶

Eczematous dermatitis similar to stasis dermatitis can occasionally develop. It is usually responsive to topical steroids or calcineurin inhibitors but often recurs once treatment is stopped.¹

Prognosis^1,13

The lesion is permanent during life and in some may become a major cosmetic disability. Laser treatment can produce good results but complete clearance is rare.¹⁷ Research to develop treatments that will completely eradicate the lesion is ongoing.

Document references

1. Antaya RJ; Capillary Malformation, Medscape, Sep 2009
2. Nijhawan RI, Bard S, Blyumin M, et al; Early localized morphea mimicking an acquired port-wine stain. J Am Acad Dermatol. 2011 Apr;64(4):779-82. Epub 2010 Sep 17. [abstract]
3. Sturge-Weber Syndrome, Online Mendelian Inheritance in Man (OMIM)
4. Janniger CK; Klippel-Trenaunay-Weber Syndrome (Dermatology perspective), Medscape, Mar 2010
5. Klippel-Trenaunay-Weber Syndrome, Online Mendelian Inheritance in Man (OMIM)
6. Kolkman RG, Mulder MJ, Glade CP, et al; Photoacoustic imaging of port-wine stains. Lasers Surg Med. 2008 Mar;40(3):178-82. [abstract]
7. Zhao S, Gu Y, Xue P, et al; Imaging port wine stains by fiber optical coherence tomography. J Biomed Opt. 2010 May-Jun;15(3):036020. [abstract]
8. Vascular Birthmarks, British Association of Dermatologists, 2010
9. Chang CJ, Hsiao YC, Mihm MC Jr, et al; Pilot study examining the combined use of pulsed dye laser and topical Imiquimod versus laser alone for treatment of port wine stain birthmarks. Lasers Surg Med. 2008 Nov;40(9):605-10. [abstract]
10. McCafferty DF, Woolfson AD, Handley J, et al; Effect of percutaneous local anaesthetics on pain reduction during pulse dye laser treatment of portwine stains. Br J Anaesth. 1997 Mar;78(3):286-9. [abstract]
11. Rajaratnam R, Laughlin SA, Dudley D; Pulsed dye laser double-pass treatment of patients with resistant capillary Lasers Med Sci. 2011 Apr 8. [abstract]
12. Huang YC, Tran N, Shumaker PR, et al; Blood flow dynamics after laser therapy of port wine stain birthmarks. Lasers Surg Med. 2009 Oct;41(8):563-71. [abstract]
13. Hu X, Jiang C, Lin X, et al; Reconstruction of the Cheek after Large Port-Wine Stain Lesion Resection. Aesthetic Plast Surg. 2011 Mar 18. [abstract]
14. Sheehan DJ, Lesher JL Jr; Pyogenic granuloma arising within a port-wine stain. Cutis. 2004 Mar;73(3):175-80. [abstract]
15. Geronemus RG, Ashinoff R; The medical necessity of evaluation and treatment of port-wine stains. J Dermatol Surg Oncol. 1991 Jan;17(1):76-9. [abstract]
16. Hansen K, Kreiter CD, Rosenbaum M, et al; Long-term psychological impact and perceived efficacy of pulsed-dye laser therapy Dermatol Surg. 2003 Jan;29(1):49-55. [abstract]
17. Klein A, Baumler W, Landthaler M, et al; Laser and IPL treatment of port-wine stains: therapy options, limitations, and Lasers Med Sci. 2011 Mar 10. [abstract]

Internet and further reading

• Intralesional photocoagulation of subcutaneous congenital vascular disorders, NICE (2004)
• British Association for Skin Camouflage. Charity dedicated to providing a comprehensive service for people affected
• Chen D, Hu XJ, Lin XX, et al; Nodules arising within port-wine stains: a clinicopathologic study of 31 cases. Am J Dermatopathol. 2011 Apr;33(2):144-51. [abstract]
• Wang XT, Duan XG, Huang Q, et al; Development and clinical evaluation of medical robot assisted photodynamic Int J Med Robot. 2011 Mar;7(1):107-17. doi: 10.1002/rcs.377. Epub 2011 Jan 17. [abstract]

Acknowledgements