Facial Capillary Malformation Research Articles

Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis.

Postzygotic mutations in the GNAQ/GNA11 genes, which encode the G-protein nucleotide binding protein alpha subunits, have been identified in patients with phakomatosis pigmentovascularis (PPV). However, little is known about the Chinese population. To identify pathogenic mutations in pediatric patients with PPV within the Chinese population. We performed whole-exome sequencing (WES) using skin lesion tissues from pediatric patients diagnosed with PPV. Additionally, ultradeep-targeted sequencing was conducted to validate the somatic mutations. A genotype-phenotype correlation was analyzed by integrating data from previous reports with the findings of the present study. Thirteen patients were enrolled, all diagnosed with the cesioflammea type of PPV, except for one patient with an unclassifiable type. We identified somatic GNA11 c.547C>T (p.R183C) variant in seven patients and GNAQ c.548G>A (p.R183Q) in four patients, with low allelic fractions ranging from 2.1% to 8.6% through ultradeep sequencing. Besides, a GNAQ c.548G>A (p.R183Q) variant was detected through targeted sequencing in one of two patients who did not exhibit detectable variants via WES. The genotype-phenotype correlation analysis, involving 15 patients with a GNA11 variant and 10 with a GNAQ variant, revealed that facial capillary malformation (87% vs. 50%, P = 0.075) and ocular melanocytosis (80% vs. 40%, P = 0.087) appeared to be more frequent in patients with GNA11 mutation compared to those with GNAQ mutations. All four patients diagnosed with cesiomarmorata type or overlapping cesioflammea and cesiomarmorata type PPV carried the GNA11 variant. Our study demonstrated that the majority of PPV patients in the Chinese population carried a postzygotic variant of GNAQ/GNA11, thus further confirming the pathogenic role of GNAQ/GNA11 mosaicism in the development of PPV cesioflammea type.

Isolated diffuse choroidal hemangioma without systemic symptoms: a case report

BackgroundSturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.It can be divided into different subtypes according to different clinical manifestations. It is rare for a patient to present with isolated difuse choroidal hemangioma and ipsilateral abnormal conjunctival and episcleral vessels without other systemic symptoms.Case presentationWe report a 30-year-old man with isolated diffuse choroidal hemangioma in his right eye without systemic symptoms, such as vascular malformations in the skin or leptomeningeal angiomatosis. The only additional ophthalmic finding was ipsilateral abnormal conjunctival and episcleral vessels without glaucoma. However, there was no evidence of leptomeningeal angiomatosis or port-wine stain on the right side of the face, or glaucoma, which are common clinical manifestations of the Sturge-Weber syndrome (SWS).The absence of these characteristic symptoms did not preclude the diagnosis, and the patient could be diagnosed with a particular subtype of SWS.ConclusionsThis is a rare case of documented isolated difuse choroidal hemangioma with ipsilateral abnormal conjunctival and episcleral vessels without glaucoma which we think it is belonging to a particular subtype of SWS.In addition to the traditional clinical manifestations, more and more atypical clinical manifestations are also accompanied by SWS, which requires our clinicians to continuously discover and report, so as to help more clinicians understand this disease.

A case of large airway and orbital hemangiomas with facial capillary malformation.

Infantile hemangiomas (IHs) are the most common pediatric vascular tumors, although their genetic etiology is largely unknown. Congenital capillary malformations (CMs) are associated with known somatic pathogenic variants, including GNAQ, GNA11, PIK3CA, and PIK3R1. Co-occurrence of a facial CM such as port wine stain and IH is not associated with any recognized vascular anomaly syndromes and rarely reported in the literature. We describe a case of a 5-week-old female patient with a large facial CM and extensive IHs of the lower lip, airway, and orbit who presented with airway compromise and responded to propranolol therapy.

Updates on Sturge-Weber Syndrome.

Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically have facial capillary malformation, also known as port-wine birthmark, a leptomeningeal vascular malformation seen on contrast-enhanced magnetic resonance imaging images, abnormal blood vessels in the eye, and glaucoma. Patients with SWS have impaired perfusion to the brain and are at high risk of venous stroke and stroke-like episodes, seizures, and both motor and cognitive difficulties. While the activating R183Q GNAQ somatic mutation is the most common somatic mutation underlying SWS, recent research also implicates that GNA11 and GNB2 somatic mutations are related to SWS. Recent retrospective studies suggest the use of low-dose aspirin and vitamin D in treatment for SWS and prospective drug trials have supported the usefulness of cannabidiol and Sirolimus. Presymptomatic treatment with low-dose aspirin and antiepileptic drugs shows promising results in delaying seizure onset in some patients. This review focuses on the latest progress in the field of research for Sturge-Weber syndrome and highlights directions for future research.

Treatment of facial hypertrophic capillary malformations with tumescent-assisted sclerotherapy.

ABSTRACTFacial capillary malformations (CMs) become hypertrophic and nodular overtime and pose great therapeutic challenge. Here, we describe safe and effective use of tumescent‐assisted sclerotherapy (TAS) in conjunction with yellow vascular laser (577 nm) for the treatment of HFCMs. Three patients underwent TAS were included in the case series, and complete resolution in nodularity was achieved in all patients with TAS, with no major complications such as skin necrosis, distal embolisation, blindness and neurological adverse events such as stroke or TIA occurred in any patients.

Abstract TP171: Acute Magnetic Resonance Imaging Findings In Patients With Sturge Weber Syndrome

Sturge-Weber syndrome (SWS) is a neurovascular disorder characterized by facial Port-wine stain and intracranial capillary malformations. Patients can have multiple neurological complications including seizures, headaches, and stroke-like episodes, often leading to multiple hospital presentations. Published reports have shown conflicting results on whether patients with SWS with acute neurological complaints have positive imaging findings. Small case reports have described acute ischemic or hemorrhagic changes in SWS patients, whereas larger case series have not identified such imaging findings. Our aim was to report imaging findings in a cohort of SWS patients who presented with acute neurological complaints. We performed a retrospective analysis on all MRI studies performed on SWS patients presenting to our institution with acute neurological symptoms between August 1999 and July 2018. Imaging studies were initially evaluated by the radiologists on-call, and subsequently reviewed by a separate neuroradiologist to confirm the diagnoses. Only studies that were interpreted as having acute findings by both radiologists were counted as positive. During the study period, 23 patients with SWS presented to our institution with acute neurological complaints, of which 13 (56.5%) were male, median age 3 years, with 50 MRI obtained. Seizures were the most common indication for acute imaging (58%), followed by stroke-like episodes (32%), headache (6%), lethargy (2%) and vomiting (2%). Acute changes on MRI were found in 8 studies (16%), with restricted diffusion in 5 patients (of which 4 were presumed to be due to stroke and 1 due to ongoing seizure activity), brain edema in 2 patients and a subdural fluid collection in 1 patient. Of the patients with acute imaging findings, 4 presented with seizures, 3 with stroke-like episodes, and 1 with lethargy. In conclusion, SWS patients with acute neurological complaints can have acute findings on MRI consistent with stroke or other acute injuries. Imaging appears to be an important tool in the management of acute episodes in SWS patients. Restricted diffusion in SWS patients may represent venous congestion or other hemodynamic changes leading to acute injury.

STURGE-WEBER SYNDROME IN AN EPILEPTIC CHILD: A CASE REPORT

Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder with a facial capillary malformation Port-wine stains (PWS), abnormal blood vessels of the brain (leptomeningeal angioma), or abnormal blood vessels in the eye predisposing to glaucoma. The incidence of Sturge Weber Syndrome (SWS) is a rare entity that accounts about 3 of 1000 births with PWS, 5% of them suffer SWS. We report a case of 5-years-old girl who presented with a three-days history of muscle weakness of right upper and lower limb followed by headache, loss of consciousness, dizziness, with history of hemangioma facial without any symptoms like fever, nausea, vomit, and dysarthria. Patient was a refferal patient from Sarila Husada Hospital Sragen. Head CT-Scan was performed on the admission day on Sarila Husada Hospital Sragen and confirmed by Bethesda Hospital Radiologist revealed a subcortical calcification at frontal lobe and parietal sinistra with mild atrophy at bifrontalis lobes that support SWS.

Flash Pulse Dye Laser (595nm) Therapy on Facial Capillary Malformation

Flash Pulse Dye Laser (595nm) Therapy on Facial Capillary Malformation

Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome

BackgroundSturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.Case presentationWe report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. On postmenstrual age week 39, he received intravitreal anti-VEGF. Diffuse choroidal hemangioma became evident at 40 weeks, with the classic “tomato catsup fundus” appearance. These clinical findings characterized Sturge-weber syndrome. He presented with posterior retinal vessel tortuosity and vein-to-vein anastomoses at 44 weeks.ConclusionThis is a rare case of documented progression of retinal vessel malformations in a patient with Sturge-Weber syndrome and retinopathy of prematurity.

Sturge Weber Syndrome With Posterior Fossa Involvement : A Rare Case

Sturge-Weber syndrome (SWS) is a rare congenital vascular disorder characterized by facial capillary malformation, associated capillary-venous malformations affecting the brain and eye along with calcification in the occipital or frontoparietal region. Occipital and posterior parietal lobes are the common site of involvement in SWS. Posterior fossa involvement is a rare finding with very few number of reported cases. Contrast enhanced MRI is considered as the gold standard for the diagnosis of SWS demonstrating the enhancement of pial angioma

Desafios do tratamento odontológico na síndrome de Sturge-Weber: relato de caso

<p><strong>Introduction</strong>: Sturge-Weber syndrome (SWS) is a rare condition characterized by facial capillary malformation, involves ocular, neurological, and cutaneous alterations. Associated with unilateral characteristic port-wine stains, gingival growth and purple-red coloration. <strong>Aim</strong>: his case aims to report dental treatment challenges in patients with SWS and importance of oral health maintenance in these individuals. <strong>Case report</strong>: a 20-year-old woman with an established diagnosis of SWS, presented bad breath and spontaneous gingival bleeding, with gingival growth and reddish-purple spots spread to labial and alveolar mucosa, tongue, and palate. Conditioning of the patient’s oral environment by supra and subgingival scraping, dental unit extraction was performed. A conservative treatment plan was adopted for management adequacy of oral environment owing to possible complications inherent to the condition. <strong>Conclusion</strong>: it is important to emphasize the importance of dental surgeon’s performance in relation to a multidisciplinary health team, as well as cooperation of patient, to obtain better results from the proposed therapy</p>

Sturge-Weber syndrome with anomalous venous drainage – An unusual manifestation of neurocutaneous syndrome

Sturge-Weber syndrome is a rare congenital vascular disorder manifesting with a constellation of signs and symptoms including a facial capillary malformation (port-wine stain), abnormal blood vessels of the brain (leptomeningeal angioma), and associated with abnormal blood vessels of the eye leading to glaucoma. Here, we report the case of an 18-month-old child who had skin lesions on both sides of the face since birth, macrocephaly, left-sided focal seizures, and developmental delay. The child was initiated on carbamazepine at 10 mg/kg/day at admission and the dose was increased to 15 mg/kg/day. On subsequent follow-up, the child is seizure free till now.

Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report

BackgroundSturge-Weber syndrome (SWS) is a rare and sporadic congenital neurocutaneous disorder, that is characterized by facial venous capillary malformation (port-wine birthmark), leptomeningeal venous malformation (angiomatosis), glaucoma, and neurologic problems. SWS can comorbid with other disorders in some patients, however, muscular abnormalities have still not been reported in patients with SWS.Case presentationA forty-one-year-old Chinese female who had left side port-wine stain, ipsilateral glaucoma, and hypothyroidism was included in the present study. The neurocutaneous and endocrine symptoms were consistent with the SWS diagnostic criteria. Meanwhile, the patient had progressive weakness on her both arms and legs, dramatically elevated creatine kinase (CK) and myoglobin levels, and elevated antinuclear and anti-Ro52 antibodies. Intravenous methylprednisolone (MP) (80 mg/d), methotrexate, and intravenous cyclophosphamide were administrated and the weakness of the patient was gradually relieved with normal serum CK level.ConclusionsWe reported the first case of SWS comorbid with inflammatory myopathy. The underlying mechanism for SWS and idiopathic inflammatory myopathy is still not clear, and further researches need to be conducted to deeply explore the mentioned mechanism.

Pattern of Presentation of Neurocutaneous Syndromes in a Tertiary Care Hospital of Bangladesh

Background: Neurocutaneous syndromes (NCS) represent a group of central nervous system disorders associated with lesion in the skin, eye and possibly other visceral organs. Various cutaneous manifestations usually appear early in life, progress with time but neurological features generally present at a later age. The objective of this study is to observe the frequency of pattern and presentation of various forms of neurocutaneous syndrome.
 Methodology: A descriptive cross sectional study was conducted at department of Paediatric Neurology of Bangabandhu Sheikh Mujib Medical University(BSMMU), Dhaka, Bangladesh from March, 2015 to February, 2016. Children (3month to 8 years) with NCS, diagnosed on the basis of standard diagnostic criteria for different NCS were included and compared.
 Results: Among of 27 children,16 (59.26%) boys, 09(40.74%) girls with neurocutaneous syndrome, mean age of presentation was 38.67±18.57 (range 3 month to 84 months). The various forms of NCS observed were Tuberous sclerosis complex (48.14%), Ataxia telangiectasia (29.62%), Sturge Weber Syndrome (14.81%), Neurofibromatosis1(3.7%) and Linear nevus syndrome (3.7%). In Tuberous sclerosis complex , most common feature was facial angiofibroma ( 92.30%), Hypomelanotic macule (76.90%), Shagreen patch (76.90%). In Ataxia telangiectasia, commonest presentation was ataxia 8(100%) followed by ocular telangiectasia (62.50%). In Sturge weber syndrome, commonest presentation was facial capillary malformation (100%). Neurofibromatosis patient presented with café-au-lait spot (100%). Common systemic manifestations of NCS were found in TSC and those were multicystic kidney disease (30.76%), autism spectrum disorder (15.38%) & attention deficit hyperactivity disorder (7.69%).
 Conclusion: In our study, the commonest neuro-cutaneous syndrome is tuberous sclerosis complex and it’s cutaneous manifestation is facial angiofibroma
 Bangladesh J Child Health 2019; VOL 43 (1) :15-20

Treatment of Previously Treated Facial Capillary Malformations: Results of Single-Center Retrospective Objective 3-Dimensional Analysis of the Efficacy of Large Spot 532 nm Lasers.

Current treatment of facial capillary malformations (CM) has limited efficacy. To assess the efficacy of large spot 532 nm lasers for the treatment of previously treated facial CM with the use of 3-dimensional (3D) image analysis. Forty-three white patients aged 6 to 59 were included in this study. Patients had 3D photography performed before and after treatment with a 532 nm Nd:YAG laser with large spot and contact cooling. Objective analysis of percentage improvement based on 3D digital assessment of combined color and area improvement (global clearance effect [GCE]) were performed. The median maximal improvement achieved during the treatment (GCE) was 59.1%. The mean number of laser procedures required to achieve this improvement was 6.2 (range 1-16). Improvement of minimum 25% (GCE25) was achieved by 88.4% of patients, a minimum of 50% (GCE50) by 61.1%, a minimum of 75% (GCE75) by 25.6%, and a minimum of 90% (GCE90) by 4.6%. Patients previously treated with pulsed dye lasers had a significantly less response than those treated with other modalities (GCE 37.3% vs 61.8%, respectively). A large spot 532 nm laser is effective in previously treated patients with facial CM.

Sturge-Weber Syndrome

The goal of this paper is to discuss recent developments in the diagnosis, neuroimaging, and treatment of Sturge-Weber Syndrome. Diagnosis and treatment in Sturge-Weber syndrome is evolving in the context of the recent discovery of the underlying somatic mutation in G protein subunit alpha q (GNAQ), development of novel neuroimaging techniques, as well as new multi-centered clinical trials. Sturge-Weber Syndrome is a rare, non-familial disorder that is typically characterized by the association of a facial capillary malformation with a leptomeningeal angioma of the brain and/or eye. This review will summarize the latest progress in Sturge-Weber syndrome clinical care and highlight areas of current controversy and need for future research.

Analysis of Sturge–Weber syndrome: A retrospective study of multiple associated variables

IntroductionSturge–Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. ObjectivesThis study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge–Weber syndrome in a tertiary hospital. Material and methodsThis comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge–Weber syndrome between 1998 and 2013. ResultsThe study included 13 patients (54% male, 46% female) diagnosed with Sturge–Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. ConclusionsThere are multiple clinical manifestations of Sturge–Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

Retrospective single center study of the efficacy of large spot 532 nm laser for the treatment of facial capillary malformations in 44 patients with the use of three-dimensional image analysis.

We wanted to asses the efficacy of large spot 532 nm laser for the treatment of facial capillary malformations with the use of three-dimensional (3D) image analysis. Retrospective single center study on previously non-treated patients with facial capillary malformations (CM) was performed. A total of 44 consecutive Caucasian patients aged 5-66 were included. Patients had 3D photography performed before and after and had at least one single session of treatment with 532 nm neodymium-doped yttrium aluminum garnet (Nd:YAG) laser with contact cooling, fluencies ranging from 8 to 11.5 J/cm2 , pulse duration ranging from 5 to 9 milliseconds and spot size ranging from 5 to 10 mm. Objective analysis of percentage improvement based on 3D digital assessment of combined color and area improvement (global clearance effect [GCE]) were performed. Median maximal improvement achieved during the treatment (GCEmax ) was 70.4%. Mean number of laser procedures required to achieve this improvement was 7.1 (ranging from 2 to 14)). Improvement of minimum 25% (GCE 25) was achieved by all patients, of minimum 50% (GCE 50) by 77.3%, of minimum 75% (GCE 75) by 38.6%, and of minimum 90% (GCE 90) by 13.64. Large spot 532 nm laser is highly effective in the treatment of facial CM. 3D color and area image analysis provides an objective method to compare different methods of facial CM treatment in future studies. Lasers Surg. Med. 49:743-749, 2017. © 2017 Wiley Periodicals, Inc.

Análisis del síndrome de Sturge-Weber: estudio retrospectivo de múltiples variables asociadas

IntroductionSturge-Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. ObjectivesThis study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge-Weber syndrome in a tertiary hospital. Material and methodsThis comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge-Weber syndrome between 1998 and 2013. ResultsThe study included 13 patients (54% male, 46% female) diagnosed with Sturge-Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. ConclusionsThere are multiple clinical manifestations of Sturge-Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients.

STURGE-WEBER SYNDROME: A CASE REPORT

characterized by a facial capillary malformation (port-wine stain), abnormal blood vessels on the brain (leptomeningeal angioma), and the eyes leading to glaucoma. The patient may present with seizure, hemiparesis, stroke-like episodes, headache, and developmental delay. Here, we report a case of SWS in a 5-month-old baby presenting with the features of port-wine stain, focal seizure, and intracranial calcification. Key words: Sturge-Weber syndrome, Port-wine stain, Intracranial calcification, Leptomeningeal angioma