Core Dermatology Diagnoses / CategoriesNeoplastic Benign and Malignant

Port-wine stain

Author: Faculty Reviewer:

Publish date: Posted on
Last updated: May 12, 2022

Keywords #

port-wine stain
PWS
nevus flammeus
vascular malformation
capillary malformation
Sturge-Weber Syndrome
SWS
Klippel-Trenaunay Syndrome
pulsed-dye laser
PDL
GNAQ

Diagnosis #

A port-wine stain(PWS), also known as nevus flammeus, is a cutaneous capillary malformation most commonly involving the head and neck. The vast majority are congenital. While PWSs are most commonly an isolated finding, they can also be associated with syndromes such as Sturge-Weber Syndrome (SWS) and Klippel-Trenaunay Syndrome[1,2]. PWSs involving the lower back or periocular area can also be associated with abnormalities such as spinal dysraphism or glaucoma, respectively. Both PWSs and SWS are caused by a somatic mosaic activating mutation in GNAQ, resulting in mitogen-activated protein kinase signaling causing increased cell proliferation and decreased apoptosis[3].

Key Concepts #
  • PWSs are congenital, capillary malformations that present as red macules or patches.
  • A mutation in GNAQ has been implicated as a cause of PWSs.
  • Over time, PWSs can darken in color, thicken, and develop nodularity.
  • PWSs can be associated with syndromes, such as SWS and Klippel-Trenaunay Syndrome, or other complications including glaucoma and/or spinal dysraphism.[4,5]
  • Pulsed-dye laser(PDL)is the most effective laser therapy for PWSs.
  • The term Kippel-Trenaunay Syndrome has gone out of favor. We now refer to such patients as capillary malformation with somatic overgrowth. Some of these patients have PIK3CA mutations and should be monitored for rarely associated Wilms tumor with q3month abdominal ultrasounds until age 8.
  • https://rarediseases.info.nih.gov/diseases/12182/pik3ca-related-overgrowth-spectrum
Epidemiology #

The incidence of PWSs is approximately 3 of every 1000newborns [1]. Males and females are equally affected and there is equal prevalence between premature and full-term infants[6]. While the vast majority of port-wine stains are congenital, there have been rare reports of acquired port-wine stains following trauma[7].

Clinical Features #
  • PWSs present at birth as bright or deep red, blanchable macules or patches.
  • Most commonly presents as unilateral lesions on the head and neck, but can occur on any part of the body.[8]
  • Over time, lesions may darken or thicken, and can develop vascular papules and nodules.
  • Lesions do not regress over time.
  • Features of SWS include PWSs involving the trigeminal nerve distribution, neurologic abnormalities, eye abnormalities [1].
  • Features of Klippel-Trenaunay Syndrome include capillary malformation, limb hypertrophy, and venous abnormalities[2]
Differential Diagnoses #
  • Nevus simplex
  • Nevus simplex (“salmon patch”) Port-wine stains typically have a more lateralized location, are more intense in color, and have sharply demarcated borders.  Nevus simplex are generally less demarcated, pale pink to rose colored, and are more centrally located. They can be difficult to differentiate.[2]
  • Infantile Hemangioma
  • Scleroderma
  • Arteriovenous malformation
Diagnostic Workup #

The diagnosis of PWSs is generally clinical and based on classic features, timing of onset, and evolution. Classic PWSs do not necessitate further work-up. Imaging is only indicated when evaluating for associated syndromes or abnormalities. In a child where SWS is suspected based on distribution of the PWS or presence of neurologic symptoms, an MRI is indicated to evaluate for leptomeningeal or brain abnormalities[9]. For PWSs involving the lumbar region, MRI or ultrasound should also be considered to evaluate for associated spinal dysraphism. Children with PWSs involving their eyelids or forehead should undergo a thorough ophthalmic examination to evaluate for glaucoma[10].

Treatment #

Laser therapy can be considered for treatment of port-wine stains[6]. Laser therapy may be more effective during the neonatal period, so early referral is recommended. Pulsed-dye laser (PDL) is the most effective laser therapy[6].

References #
  1. Piram, M., et al., Sturge-Weber Syndrome in Patients with Facial Port-Wine Stain.Pediatric Dermatology, 2012. 29(1): p. 32-37.
  2. Naganathan, S. and P. Tadi, Klippel Trenaunay Weber Syndrome, in StatPearls. 2020, StatPearls Publishing: Treasure Island (FL).
  3. Shirley, M.D., et al., Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ.New England Journal of Medicine, 2013. 368(21): p. 1971-1979.
  4. Khaier, A., et al., Periocular port wine stain: the great ormond street hospital experience.Ophthalmology, 2011. 118(11): p. 2274-2278.e1.
  5. Guggisberg, D., et al., Skin markers of occult spinal dysraphism in children: a review of 54 cases.Arch Dermatol, 2004. 140(9): p. 1109-15.
  6. Stier, M.F., S.A. Glick, and R.J. Hirsch, Laser treatment of pediatric vascular lesions: Port wine stains and hemangiomas.J Am Acad Dermatol, 2008. 58(2): p. 261-85.
  7. Adams, B.B. and A.W. Lucky, Acquired Port-wine Stains and Antecedent Trauma: Case Report and Review of the Literature.Archives of Dermatology, 2000. 136(7): p. 897-899.
  8. Lee, J.W. and H.Y. Chung, Capillary Malformations (Portwine Stains) of the Head and Neck: Natural History, Investigations, Laser, and Surgical Management.Otolaryngol Clin North Am, 2018. 51(1): p. 197-211.
  9. Zallmann, M., et al., Retrospective review of screening for Sturge-Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high-risk port-wine stains.Pediatr Dermatol, 2018. 35(5): p. 575-581.
  10. Ch’ng, S. and S.T. Tan, Facial port-wine stains -clinical stratification and risks of neuro-ocular involvement.J Plast Reconstr Aesthet Surg, 2008. 61(8): p. 889-93.
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