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Capillary malformations (port wine stains) and associated syndromes

Sheila Galbraith, MD
Section Editor
Moise L Levy, MD
Deputy Editor
Rosamaria Corona, MD, DSc


Capillary malformations (port wine stains or nevus flammeus, MIM #163000) are low-flow vascular malformations of dermal capillaries and postcapillary venules. They are present at birth as blanchable pink to red patches and may be located anywhere on the body, typically with a unilateral or segmental distribution that respects the midline. Capillary malformations do not regress, but grow in proportion to the child's growth and become thicker and darker in color during adulthood. Although capillary malformations are most often isolated skin anomalies, they may be associated with complex malformation syndromes. (See 'Associated syndromes' below.)

The pathogenesis, clinical presentation, and associated syndromes of capillary malformations will be discussed here. Laser treatment of capillary malformations is discussed separately. (See "Laser and light therapy for cutaneous vascular lesions", section on 'Port wine stains'.)


In a prospective study and literature review, capillary malformations occurred in 0.1 to 2 percent of newborns without sex predilection [1]. They are generally sporadic, but familial cases have been reported [2-4].


The etiology and pathogenesis of capillary malformations are unknown. Several mechanisms may be involved in their development, including vascular ectasia, lack of neuronal control of blood flow, overexpression of vascular endothelial growth factor (VEGF) and VEGF receptor, and development of compensatory, collateral passageways for venous drainage [5-7].

In a genome-wide study, a specific somatic mosaic activating mutation in the GNAQ gene on chromosome 9q21,2, encoding the guanine nucleotide binding protein G-alpha-q, was found in skin samples of 12 of 13 participants with nonsyndromic port-wine stains and in skin or brain samples of 23 of 26 participants with Sturge-Weber syndrome, but in none of 6 control subjects [8]. This mutation (c.548G→A, resulting in the p.Arg183Gln amino acid substitution) may be involved in abnormal cell proliferation through the activation of the extracellular signal-regulated kinase (ERK) pathway.


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Literature review current through: Nov 2016. | This topic last updated: Wed Nov 02 00:00:00 GMT+00:00 2016.
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