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BMC Ophthalmology Jun 2022Sturge-Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study...
BACKGROUND
Sturge-Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study analysed the clinical characteristics of infants with PWS and glaucoma secondary to SWS.
METHODS
Children with PWS and glaucoma secondary to SWS were enrolled. Data were extracted from ophthalmic and systemic examination findings. Ocular examinations included intraocular pressure, anterior segment and fundus examination, and ocular A-scan and B-scan ultrasonography.
RESULTS
Fifty-seven patients were included, with a mean age of 9.9 ± 11.9 months, and 34 (59.6%) patients were male. In all, 61 eyes were diagnosed with glaucoma. Forty-one patients (71.9%) had unilateral facial PWS and glaucoma occurred on the same side. Eight patients (14.0%) had Mongolian spots and ten patients (17.5%) had epilepsy. Corneal changes included corneal oedema (n = 36 eyes, 59.0%), corneal opacity (n = 15 eyes, 24.6%), and Haab lines (n = 13 eyes, 21.3%). Mean corneal diameter and thickness in the eyes with glaucoma was larger than those in the unaffected eyes (12.2 ± 0.7 mm vs 10.8 ± 0.6 mm, P < 0.001; 681.2 ± 106.4 µm vs 578.2 ± 58.2 µm, P < 0.001). The eyes with glaucoma had higher IOP and larger axial length and C/D ratio (19.3 ± 6.2 mmHg vs 11.6 ± 4.2 mmHg, P < 0.001; 21.23 ± 1.93 mm vs 19.68 ± 1.61 mm, P < 0.001; and 0.57 ± 0.18 vs 0.24 ± 0.15, P < 0.001). Thirty-three (57.9%) and 25 (43.9%) patients showed diffuse choroidal haemangioma (DCH) and conjunctival/episcleral haemangiomas, respectively. Ten patients (17.5%) showed iris anterior insertion or hyperpigmentation in the anterior chamber angles. Six of them had Mongolian spots at the same time.
CONCLUSIONS
Monocular glaucoma, DCH, and conjunctival/episcleral haemangiomas are common in SWS patients with PWS and glaucoma. Glaucomatous eyes have larger corneal diameter and axial length and thicker cornea. Patients with Mongolian spots have higher incidence of iris anterior insertion or hyperpigmentation in anterior chamber angle.
Topics: Child; Female; Glaucoma; Hemangioma; Hemangioma, Capillary; Humans; Hyperpigmentation; Infant; Male; Port-Wine Stain; Sturge-Weber Syndrome
PubMed: 35681114
DOI: 10.1186/s12886-022-02476-x -
Der Hautarzt; Zeitschrift Fur... Jul 2019In many complex genetic syndromes, various distinct capillary nevi may serve as diagnostic clues. (Review)
Review
BACKGROUND
In many complex genetic syndromes, various distinct capillary nevi may serve as diagnostic clues.
OBJECTIVE
To render dermatologists in practice capable of recognizing and classifying such cutaneous markers.
MATERIAL AND METHODS
On the basis of the literature and own observations, this review describes 14 different syndromes associated with capillary nevi that can be recognized by dermatologists as a diagnostic indication.
RESULTS
The following capillary nevi can be distinguished for syndrome recognition: nevus flammeus of the Sturge-Weber syndrome (GNAQ), port-wine nevus of the Proteus type (AKT1), port-wine nevus of the PIK3CA-related overgrowth spectrum (PROS) type, midfacial port-wine patch of the PROS type, reticulate capillary nevus heralding megalencephaly-capillary nevus syndrome that is likewise part of PROS, cutis marmorata telangiectatica congenita (van Lohuizen syndrome), nevus roseus, nevus vascularis mixtus, rhodoid nevus (RASA1), nevus anemicus as a diagnostic indication of neurofibromatosis 1 and Carter-Mirzaa macules (STAMBP).
CONCLUSION
A diagnostic difficulty lies in the fact that not all syndromes associated with capillary nevi have been elucidated at the molecular level. For this reason, the preliminary dimension of the present review should be borne in mind. On the other hand, dermatologists in practice now have the fascinating chance to stimulate further advances in this particular field of knowledge by asking experts in dermatology, pediatrics or medical genetics how to solve the problem of molecular syndrome recognition in a puzzling case.
Topics: Child; Humans; Port-Wine Stain; Skin; Skin Abnormalities; Skin Diseases, Vascular; Syndrome
PubMed: 31111168
DOI: 10.1007/s00105-019-4418-4 -
Acta Dermato-venereologica Aug 2021Port-wine stains are congenital vascular malformations that affect the quality of life of children and their parents. This study used the Family Dermatology Life Quality...
Port-wine stains are congenital vascular malformations that affect the quality of life of children and their parents. This study used the Family Dermatology Life Quality Index and Children's Dermatology Life Quality Index to examine the effects of port-wine stains on the quality of life of children and their parents, including an in-depth, systematic analysis of the moderating effects of the children's sex and port-wine stain classification. The study included 43 children (25 girls and 18 boys) and their parents. The presence of a port-wine stain had a significantly greater impact on the quality of life of mothers than on that of fathers (p < 0.001). Port-wine stains in girls had a greater effect on paternal quality of life than did port-wine stains in boys (girls p < 0.01; boys p = 0.542). Severe types of port-wine stains exerted a greater impact on maternal quality of life (pink-red type, dark-red type, and purple-dark type: p < 0.001, p = 0.948 and p = 0.086, respectively). There-fore, clinicians should consider familial relationships and differences when offering psychological support.
Topics: Child; Family; Female; Hemangioma, Capillary; Humans; Male; Parents; Port-Wine Stain; Quality of Life
PubMed: 34263327
DOI: 10.2340/00015555-3883 -
Journal of Drugs in Dermatology : JDD Nov 2017
Port-wine stain (PWS) is the second most common congenital vascular malformation characterized as ectatic capillaries and venules in the dermis that clinically... (Review)
Review
Port-wine stain (PWS) is the second most common congenital vascular malformation characterized as ectatic capillaries and venules in the dermis that clinically appears as a deep red to purple patch on the skin. Typically, PWS progressively darken and may become hypertrophic or nodular without treatment. There are several treatment options available for PWS from topical antiangiogenic agents to laser therapies. Vascular-specific lasers are the gold standard in treating PWS and classically pulsed dye lasers are usually the treatment of choice. However, some patients with PWS are recalcitrant to PDL and may require a combination of treatment methods. Nonetheless, even with the advancements in laser therapies utilized today, it is can be difficult to achieve complete clearance of the PWS. Thus, new innovations for treating recalcitrant PWS are underway in order to improve overall patient treatment outcomes.
J Drugs Dermatol. 2017;16(11):1145-1151.
.Topics: Humans; Laser Therapy; Lasers, Dye; Low-Level Light Therapy; Port-Wine Stain
PubMed: 29141064
DOI: No ID Found -
Photodiagnosis and Photodynamic Therapy Jun 2023Hemoporfin-mediated photodynamic therapy (Hemoporfin-PDT) has been approved for port-wine stain (PWS) in China in 2017. This study evaluated the efficacy and safety of...
BACKGROUND
Hemoporfin-mediated photodynamic therapy (Hemoporfin-PDT) has been approved for port-wine stain (PWS) in China in 2017. This study evaluated the efficacy and safety of Hemoporfin-PDT for PWS in a real life setting and investigated factors that influence the efficacy.
METHODS
A multicenter retrospective study included patients with PWS who underwent Hemoporfin-PDT in 29 hospitals across China and completed at least two months of follow-up. The efficacy was evaluated based on patien photographs.
RESULTS
A total of 1679 patients were included. After the first and second sessions of Hemoporfin-PDT, 63.5 and 75.3% of patients responded, respectively. The response rate of purple-type PWS was significantly lower than that of pink-type PWS (OR: 0.71, 95% CI: 0.54-0.94, P < 0.05), and there was no significant difference between thick- and pink-type (OR: 0.72, 95% CI: 0.42-1.22, P > 0.05). The response rate of PWS on the limbs was significantly lower than that on the mid-face (OR: 0.35, 95% CI: 0.23-0.53, P < 0.0001), while no significant difference was observed between PWS on the peripheral part of the face, neck or other parts of the body and PWS on the mid-face (P > 0.05). The response rate was lower in male patients with an age > 3 years or ≤ 6 years (P < 0.05). Previous treatment history did not affect the efficacy (P > 0.05). Hemoporfin-PDT was well tolerated.
CONCLUSION
Patients with PWS have a good response and good tolerance to Hemoporfin-PDT.
Topics: Humans; Male; Child, Preschool; Photochemotherapy; Port-Wine Stain; Photosensitizing Agents; Retrospective Studies; Hematoporphyrins
PubMed: 37001715
DOI: 10.1016/j.pdpdt.2023.103545 -
Photobiomodulation, Photomedicine, and... Sep 2021Port-wine stain (PWS) patients may simultaneously have accompanied soft tissue hypertrophy. The outcome of laser therapy can be poor. To study the imaging and...
Port-wine stain (PWS) patients may simultaneously have accompanied soft tissue hypertrophy. The outcome of laser therapy can be poor. To study the imaging and histopathological characteristics of PWS patients with facial overgrowth. We retrospectively assessed the effect of therapy on a subset of PWS patients with facial overgrowth. The degree of hypertrophy and the density of enhanced signals on T1-weighted magnetic resonance imaging (MRI) were independently graded by two radiologists using a quartile scale. Biopsies/resection of tissue deep to the facial muscle was reviewed and compared with flat PWS. Thirty-two PWS patients with facial hypertrophy and 15 patients with flat PWS were included. MRI revealed a statistically significant correlation between the degree of hypertrophy and the density of enhanced signals (3.02 ± 0.92 vs. 2.47 ± 0.69; < 0.01). Histological features of a subset of patients showed that vascular malformations existed in the dermis and also in the subcutaneous fat and muscle with much larger vessel diameters (fat, 0.048 vs. 0.020; muscle, 0.035 vs. 0.017) and thicker vessel walls (fat, 0.014 vs. 0.006; muscle, 0.010 vs. 0.006) (both < 0.05). The imaging and pathological findings indicate that capillary malformation in subcutaneous tissue might be a major cause of poor therapeutic effect of laser therapy for PWS. Clinical trial registration no.: ChiCTR1800014278.
Topics: Humans; Hypertrophy; Laser Therapy; Low-Level Light Therapy; Port-Wine Stain; Retrospective Studies
PubMed: 34546110
DOI: 10.1089/photob.2020.4982 -
International Journal of Dermatology Jul 2022
Topics: Carcinoma, Basal Cell; Hemangioma, Capillary; Humans; Port-Wine Stain; Skin Neoplasms
PubMed: 34628637
DOI: 10.1111/ijd.15944 -
Optics Express Apr 2023Port wine stain (PWS) is a congenital cutaneous capillary malformation composed of ecstatic vessels, while the microstructure of these vessels remains largely unknown....
Port wine stain (PWS) is a congenital cutaneous capillary malformation composed of ecstatic vessels, while the microstructure of these vessels remains largely unknown. Optical coherence tomography angiography (OCTA) serves as a non-invasive, label-free and high-resolution tool to visualize the 3D tissue microvasculature. However, even as the 3D vessel images of PWS become readily accessible, quantitative analysis algorithms for their organization have mainly remained limited to analysis of 2D images. Especially, 3D orientations of vasculature in PWS have not yet been resolved at a voxel-wise basis. In this study, we employed the inverse signal-to-noise ratio (iSNR)-decorrelation (D) OCTA (ID-OCTA) to acquire 3D blood vessel images in vivo from PWS patients, and used the mean-subtraction method for de-shadowing to correct the tail artifacts. We developed algorithms which mapped blood vessels in spatial-angular hyperspace in a 3D context, and obtained orientation-derived metrics including directional variance and waviness for the characterization of vessel alignment and crimping level, respectively. Combining with thickness and local density measures, our method served as a multi-parametric analysis platform which covered a variety of morphological and organizational characteristics at a voxel-wise basis. We found that blood vessels were thicker, denser and less aligned in lesion skin in contrast to normal skin (symmetrical parts of skin lesions on the cheek), and complementary insights from these metrics led to a classification accuracy of ∼90% in identifying PWS. An improvement in sensitivity of 3D analysis was validated over 2D analysis. Our imaging and analysis system provides a clear picture of the microstructure of blood vessels within PWS tissues, which leads to a better understanding of this capillary malformation disease and facilitates improvements in diagnosis and treatment of PWS.
Topics: Humans; Port-Wine Stain; Tomography, Optical Coherence; Capillaries; Angiography
PubMed: 37157245
DOI: 10.1364/OE.485619 -
European Journal of Ophthalmology Jan 2020To report on the clinical presentation and surgical treatment (procedure and outcome(s)) of glaucoma in children with facial port wine stain.
PURPOSE
To report on the clinical presentation and surgical treatment (procedure and outcome(s)) of glaucoma in children with facial port wine stain.
MATERIALS AND METHODS
This is a retrospective chart review of children with facial port wine stain referred to Alexandria University paediatric ophthalmology practice from 2005 to 2016. The charts of 22 children (44 eyes) with facial port wine stain were reviewed. The data extracted included demographics, results of ophthalmic examination findings and treatment(s). The main outcome measures were the number of eyes stratified as glaucoma, glaucoma suspects and no glaucoma at the initial and final presentations.
RESULTS
The average age of presentation was 18.2 (±33.9) months. After a follow-up of over 16.1 (±24.8) months, there were 34%, 30% and 36% of the study eyes diagnosed as glaucoma, glaucoma suspects and no glaucoma, respectively with mean ± standard deviation of intraocular pressure of 20.6 ± 5.1, 13.6 ± 5.4 and 7.5 ± 1.7 mmHg. The majority (91%) of eyes presenting with glaucoma had clear corneas. In total, 11 eyes were operated upon for glaucoma. The recorded success rate was 91%. Two eyes developed a postoperative exudative choroidal detachment, of which one resolved spontaneously and the other was successfully managed by intravitreal gas injection.
CONCLUSION
Glaucoma is a significant ocular hazard in children with facial port wine stain that may not be evident on the initial presentation. The presentation is usually with a clear cornea and surgical intervention is associated with a high success rate and a low rate of complications.
Topics: Child; Child, Preschool; Female; Glaucoma; Humans; Infant; Intraocular Pressure; Intravitreal Injections; Male; Ocular Hypertension; Outcome Assessment, Health Care; Port-Wine Stain; Postoperative Period; Retrospective Studies; Sturge-Weber Syndrome; Tonometry, Ocular; Trabeculectomy
PubMed: 30563364
DOI: 10.1177/1120672118819668 -
Journal of the American Academy of... Nov 2021Heightened intraocular pressure resulting in glaucoma and impaired vision is treatable if detected early. It is therefore necessary to identify populations at risk for...
BACKGROUND
Heightened intraocular pressure resulting in glaucoma and impaired vision is treatable if detected early. It is therefore necessary to identify populations at risk for glaucoma for regular screening visits.
OBJECTIVE
To investigate the prevalence of glaucoma in patients with facial port-wine stains (PWSs), nevus of Ota, and phakomatosis pigmentovascularis (PPV) and to establish the association between facial vascular birthmarks and ocular complications.
METHODS
This study is a retrospective chart review of 166 patients with facial PWS, PPV, and nevus of Ota over a 10-year period.
RESULTS
Of the 166 cases, 76 patients were diagnosed with PWS, 83 with nevus of Ota, and 7 with PPV. The mean age of patients was 12.8 years, ranging from newborn to 63 years old. Fifteen patients were diagnosed with glaucoma. Of 15 patients, 11 presented with PWS, and 4 presented with both PWS and PPV. Of 83 patients with nevus of Ota, only 2 (2.4%) presented with increased ocular pressure.
LIMITATIONS
The relatively short follow-up period is a limiting factor in this study.
CONCLUSIONS
Early and periodic ophthalmic examinations in patients with PWS, PPV, and nevus of Ota are essential to minimizing the risk of developing glaucoma in these groups of patients.
Topics: Adolescent; Adult; Child; Child, Preschool; Glaucoma; Hemangioma, Capillary; Humans; Infant; Infant, Newborn; Middle Aged; Neurocutaneous Syndromes; Nevus of Ota; Port-Wine Stain; Retrospective Studies; Skin Neoplasms; Young Adult
PubMed: 32387657
DOI: 10.1016/j.jaad.2020.04.169