Laser applications for benign oral lesions.

BACKGROUND AND OBJECTIVE: Different subspecialists treat benign intraoral lesions using various approaches including surgical excision, medical therapy, sclerotherapy, and laser photocoagulation. The goal of this study was to establish whether lasers could effectively target and destroy oral lesions containing endogenous chromophores, while minimizing injury to unaffected adjacent tissues and critical structures. MATERIALS AND METHODS: This retrospective study involved 26 cases of benign oral lesions, both vascular and pigmented, which were addressed by means of selective laser treatment. Pathologies were port-wine stains, hereditary hemorragic teleangectasia, hemangiomas, venous and arteriovenous malformations, pyogenic granuloma, and hairy reconstructive flaps. Electronic medical records and photographic documentation were reviewed. Three blinded staff personnel not involved with patient care in this study evaluated photographs taken prior to the first and after the final laser treatments. Observers rated the percentage clearance of the lesions or the ablation of bleeding, and the assessed values were averaged for each patient. RESULTS: An average of 30-95% lightening was observed in the intraoral port-wine stains, 90% in the hemangiomas, 70% in arteriovenous malformations, 81% for venous malformations, 86% for venous lakes, and 100% for the pyogenic granuloma. Bleeding was ablated in all hereditary hemorrhagic telangiectasia lesions treated using the pulsed dye laser with or without the Alexandrite laser. Intraoral hair growing on the skin paddle of microvascular flaps was completely removed in one of the three cases treated using the Alexandrite laser. In the two remaining cases, some hair removal was achieved, but because the residual hairs were grey or white (absence of melanocytic chromophore), photocoagulation was less effective. CONCLUSION: Lasers are a safe and effective means to selectively destroy specific chromphores. Such specific targeting ensures complete destruction of pathological tissue, decreasing the possibility of relapse and/or recurrence. Selective laser treatment of benign intraoral lesions represents a niche application that fills a gap in the multidisciplinary management of several conditions such as oral vascular anomalies and hairy reconstructive flaps.

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

BACKGROUND AND OBJECTIVE: Outcomes analysis of laser treatment for port-wine stains has been hampered by the lack of an objective measure of surface area and volume; moreover, treatment success is often gauged by clinician subjective assessment. Three-dimensional (3D) surface imaging has been applied in several medical disciplines to quantify surface changes, with promising results. We hypothesized that 3D surface imaging could be used to objectively measure changes in area and volume of port-wine stains following laser treatment. STUDY DESIGN/MATERIALS AND METHODS: We performed a retrospective review of consecutive patients with port-wine stains treated over a 20-month time period. Area and volume of the lesions were measured using 3dMD photogrammetric software (3dMD, Atlanta, GA) before and after a series of sequential pulsed dye laser and/or alexandrite laser treatments. RESULTS: Fifty-five patients with 59 port-wine stains were included in the study. The initial average measured area was 44.3 cm(2) ; final average measured area decreased to 36.9 cm(2) (P < 0.001). The average volume change was 1.20 cc for all PWS included in the study and 1.90 cc for lesions that received at least 5 laser treatments within the study period. CONCLUSION: 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.

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up.

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

BACKGROUND AND OBJECTIVES: Outcomes analysis of laser treatment for port-wine stains (PWS) has been hampered by the lack of an objective measure of surface area and volume; moreover, treatment success is often gauged by clinician subjective assessment. Three-dimensional (3D) surface imaging has been applied in several medical disciplines to quantify surface changes, with promising results. We hypothesized that 3D surface imaging could be used to objectively measure changes in area and volume of PWS following laser treatment. STUDY DESIGN/MATERIALS AND METHODS: We performed a retrospective review of consecutive patients with PWS treated over a 20-month time period. Area and volume of the lesions were measured using 3dMD photogrammetric software (3dMD; Atlanta, GA) before and after a series of sequential pulsed dye laser and/or alexandrite laser treatments. RESULTS: Fifty-five patients with 59 PWS were included in the study. The initial average measured area was 45.6 cm(2) ; final average measured area decreased to 34.6 cm(2) (P < 0.001). The average volume change was 1.20 ml for all PWS included in the study and 1.90 ml for lesions that received at least five laser treatments within the study period. CONCLUSION: Three-dimensional photography demonstrated area and volume changes in patients with PWS after laser treatments. Future studies to determine if statistically significant changes correlate with clinically appreciable changes are warranted.

Societal-Perceived Health Utility of Hypertrophic Facial Port-Wine Stain and Laser Treatment.

Background: Port-wine stain (PWS) is a congenital capillary malformation occurring commonly in the head and neck. Left untreated, affected areas may darken and hypertrophy over time, resulting in pronounced disfigurement, risk of spontaneous hemorrhage, and functional impairment. The burden of hypertrophic facial PWS and the benefit of laser therapy have not heretofore been well characterized. Herein, the health utility of these two states is assessed among naïve observers. Methods: Naïve observers (n = 262) ranked the utility of four randomized health states (monocular blindness, binocular blindness, hypertrophic facial PWS, and laser-treated facial PWS) by means of visual analogue scale (VAS), standard gamble (SG), and time trade-off (TTO) techniques. Health states are presented using standardized facial photographs. Results: Health utilities (VAS, SG, and TTO) were reported as follows (mean ± standard deviation): monocular blindness (0.73 ± 0.21, 0.86 ± 0.21, 0.87 ± 0.18), binocular blindness (0.51 ± 0.26, 0.72 ± 0.27, 0.69 ± 0.27), hypertrophic facial PWS (0.71 ± 0.24, 0.83 ± 0.23, 0.83 ± 0.21), and laser-treated facial PWS (0.87 ± 0.16, 0.91 ± 0.18, 0.92 ± 0.16). Laser-treated facial PWS showed significantly higher utility measures than the untreated hypertrophic state (p < 0.001, all measures), with a difference of 3.24 quality-adjusted life years. Linear regression analysis revealed that non-Caucasian race and higher level of education were associated with lower SG and TTO utility scores for the hypertrophic facial PWS state among naïve observers. Conclusions: Societal-perceived utility of hypertrophic facial PWS is similar to that of monocular blindness. Laser-treated facial PWS is perceived significantly more favorably than the untreated hypertrophic state. These findings provide insight into the societal burden of facial PWS and impact of laser treatment, facilitating objective comparisons with other disparate disease states.

Genetic Variants Associated with Port-Wine Stains.

BACKGROUND: Port-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. OBJECTIVES: Understanding PWS genetic determinants could provide insight into new treatments. METHODS: Our 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. RESULTS: A 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. CONCLUSIONS: This 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.