Quantitative three‐dimensional assessment of port‐wine stain clearance after laser treatments

Frigerio, Alice; Bhama, Prabhat K; Tan, Oon Tian

doi:10.1002/lsm.22193

Cited by 2 publications

(1 citation statement)

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“…not associated with other vascular anomalies. PWS were phenotyped by means of 3dMD photogrammetric software (3dMD; Atlanta, GA) according to a method previously described [ 10 ]; location and side of each lesion are detailed in Table 1 .…”

Section: Methodsmentioning

confidence: 99%

Genetic Variants Associated with Port-Wine Stains

et al. 2015

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BackgroundPort-wine stains (PWS) are capillary malformations, typically located in the dermis of the head and neck, affecting 0.3% of the population. Current theories suggest that port-wine stains are caused by somatic mutations that disrupt vascular development.ObjectivesUnderstanding PWS genetic determinants could provide insight into new treatments.MethodsOur study used a custom next generation sequencing (NGS) panel and digital polymerase chain reaction to investigate genetic variants in 12 individuals with isolated port-wine stains. Importantly, affected and healthy skin tissue from the same individual were compared. A subtractive correction method was developed to eliminate background noise from NGS data. This allowed the detection of a very low level of mosaicism.ResultsA novel somatic variant GNAQ, c.547C>G, p.Arg183Gly was found in one case with 4% allele frequency. The previously reported GNAQ c.548G>A, p.Arg183Gln was confirmed in 9 of 12 cases with an allele frequency ranging from 1.73 to 7.42%. Digital polymerase chain reaction confirmed novel variants detected by next generation sequencing. Two novel somatic variants were also found in RASA1, although neither was predicted to be deleterious.ConclusionsThis is the second largest study on isolated, non-syndromic PWS. Our data suggest that GNAQ is the main genetic determinant in this condition. Moreover, isolated port-wine stains are distinct from capillary malformations seen in RASA1 disorders, which will be helpful in clinical evaluation.

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Section: Methodsmentioning

confidence: 99%

Genetic Variants Associated with Port-Wine Stains

et al. 2015

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Laser treatment of port-wine stains

Brightman

Geronemus

Reddy

2015

CCID

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Port-wine stains are a type of capillary malformation affecting 0.3% to 0.5% of the population. Port-wine stains present at birth as pink to erythematous patches on the skin and/or mucosa. Without treatment, the patches typically darken with age and may eventually develop nodular thickening or associated pyogenic granuloma. Laser and light treatments provide improvement through selective destruction of vasculature. A variety of vascular-selective lasers may be employed, with the pulsed dye laser being the most common and well studied. Early treatment produces more optimal results. Advances in imaging and laser treatment technologies demonstrate potential to further improve clinical outcomes.

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Quantitative three‐dimensional assessment of port‐wine stain clearance after laser treatments

Abstract: Three-dimensional photography demonstrated area and volume changes in patients with port-wine stains after laser treatments. Future studies to determine if statistically significant changes correlate with clinically appreciable changes are warranted.

Cited by 2 publications

References 16 publications

Genetic Variants Associated with Port-Wine Stains

Genetic Variants Associated with Port-Wine Stains

Laser treatment of port-wine stains

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