What do Cochrane systematic reviews say about congenital vascular anomalies and hemangiomas? A narrative review

ABSTRACT BACKGROUND: Congenital vascular anomalies and hemangiomas (CVAH) such as infantile hemangiomas, port-wine stains and brain arteriovenous malformations (AVMs) impair patients' lives and may require treatment if complications occur. However, a great variety of treatments for those conditions exist and the best interventions remain under discussion. OBJECTIVE: To summarize Cochrane systematic review (SR) evidence on treatments for CVAH. DESIGN AND SETTING: Review of SRs conducted in the Division of Vascular and Endovascular Surgery of Universidade Federal de São Paulo, Brazil. METHODS: A broad search was conducted on March 9, 2021, in the Cochrane Database of Systematic Reviews to retrieve any Cochrane SRs that assessed treatments for CVAH. The key characteristics and results of all SRs included were summarized and discussed. RESULTS: A total of three SRs fulfilled the inclusion criteria and were presented as a qualitative synthesis. One SR reported a significant clinical reduction of skin redness by at least 20%, with more pain, among 103 participants with port-wine stains. One SR reported that propranolol improved the likelihood of clearance 13 to 16-fold among 312 children with hemangiomas. One SR reported that the relative risk of death or dependence was 2.53 times greater in the intervention arm than with conservative management, among 218 participants with brain AVMs. CONCLUSION: Cochrane reviews suggest that treatment of port-wine stains with pulsed-dye laser improves redness; propranolol remains the best option for infantile hemangiomas; and conservative management seems to be superior to surgical intervention for treating brain AVMs.

Síndrome de Sturge-Weber: revisión de la literatura / Sturge-Weber syndrome: literature review

El síndrome de Sturge-Weber es un trastorno neurocutáneo, congénito, esporádico e infrecuente que afecta aproximadamente a 1 de cada 20 000 a 50 0000 nacidos vivos y que se relaciona con una mutación genética activadora somática en GNAQ. Clínicamente se caracteriza por la presencia de una mácula en vino de Oporto en la piel de territorio trigeminal, angiomatosis leptomeníngea y glaucoma. Puede asociarse a diferentes manifestaciones clínicas, de las cuales las crisis epilépticas representan la manifestación neurológica más frecuente que se asocia a un deterioro cognitivo importante en estos pacientes. En el presente artículo se realiza una revisión descriptiva de la literatura sobre los aspectos etiológicos, fisiopatológicos, de clasificación, clínicos, diagnósticos y del tratamiento del síndrome de Sturge-Weber.

Sturge-Weber syndrome is a rare, sporadic, congenital neurocutaneous disorder affecting approximately 1 in 20,000 to 50,000 live births that is associated with a somatic activating gene mutation in GNAQ. Clinically it is characterized by the presence of a port wine stain on the skin of trigeminal territory, leptomeningeal angiomatosis and glaucoma. It can be associated with different clinical manifestations, of which the epileptic seizures represents the most frequent neurological manifestation associated with significant cognitive impairment in these patients. This article makes a descriptive review of the literature on the etiological, pathophysiological, classification, clinical, diagnostic and treatment aspects of Sturge-Weber syndrome.

Dental care challenges in Sturge-Weber syndrome: a case report / Desafios do tratamento odontológico na síndrome de Sturge-Weber: relato de caso

Introduction: 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. Aim: his case aims to report dental treatment challenges in patients with SWS and importance of oral health maintenance in these individuals. Case report: 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. Conclusion: 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.

Introdução: a síndrome de Sturge-Weber (SSW) é uma condição rara caracterizada por malformação capilar facial, envolve alterações oculares, neurológicas e cutâneas. Associada a manchas unilaterais características do vinho do porto, crescimento gengival e coloração vermelho-púrpura. Objetivo: este caso tem como objetivo relatar desafios do tratamento odontológico em pacientes com SSW e a importância da manutenção da saúde bucal nesses indivíduos. Relato de caso: paciente do sexo feminino, 20 anos, com diagnóstico estabelecido de SSW, apresentou mau hálito e sangramento gengival espontâneo, com crescimento gengival e manchas roxas avermelhadas espalhadas pela mucosa labial e alveolar, língua e palato. Condicionamento do ambiente oral do paciente por raspagem supra e subgengival, foi realizada extração da unidade dental. Foi adotado um plano de tratamento conservador para adequação do manejo do ambiente bucal devido a possíveis complicações inerentes à condição. Conclusão: é importante enfatizar a importância do desempenho do cirurgião-dentista em relação a uma equipe multidisciplinar de saúde, bem como a cooperação do paciente, para obter melhores resultados com a terapia proposta.

Newly Diagnosed Klippel-Trenaunay Syndrome Presenting with Rectal Polyposis in a Male Pediatric Patient: A Case Report / 대한소아소화기영양학회지

Acquired Port-Wine Stain Following Minor Trauma: Fegeler Syndrome

No abstract available.

Tratamiento con Pulsed Dye Laser de mancha de vino oporto: seguimiento a 10 años / Treatment with Pulsed Dye Laser of wine stain Porto: 10-year follow-up

Las manchas de vino de oporto son un tipo de malformación capilar que afecta del 0,3 al 0,5% de la población. Están presentes desde el nacimiento como máculas o placas eritematosas en la piel o mucosas. Sin tratamiento, las lesiones tienden a oscurecerse con la edad, tornándose rojizas o color púrpura, y pueden desarrollar engrosamiento nodular o un granuloma piógeno asociado. Los tratamientos con láser proporcionan mejoría mediante la destrucción selectiva de la vasculatura. Se han utilizado una variedad de láseres vasculares selectivos, pero el tratamiento de primera elección es el láser de colorante pulsado. Los mejores resultados se obtienen cuando el tratamiento es instaurado tempranamente. (AU)

Port wine stains are a type of vascular malformation that affects 0.3% to 0.5% of the population. They are present from birth as erythematous macules or plaques on the skin or mucous membranes. Without treatment, these lesions tend to darken with age, becoming reddish or purple and may develop nodular thickening or an associated pyogenic granuloma. Laser treatments might provide an improvement by selective destruction of the vasculature. A variety of selective vascular lásers may be employed, with the pulsed dye laser as the gold standard treatment. Better results are obtained when the treatment is established early. (AU)

RASA1-Related Parkes Weber Syndrome in a Neonate

Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.

Hemoporfin-mediated photodynamic therapy for the treatment of port-wine stain birthmarks in pediatric patients

Abstract: Port-wine stain is a type of common congenital superficial telangiectasia in the dermal layer mostly occurring on the forehead, face, and neck. The affected skin shows abnormal red or purple lesions, which darken and thicken. Nodular changes may develop with advancing age. If untreated, port-wine stains scarcely regress, which can have serious lifelong psychological impact on patients and affect their quality of life. In this report, we focused on two cases of port-wine stain in pediatric patients; the youngest patient was only 1.5 years old. During and after treatment, Hemoporfin-mediated photodynamic therapy features fewer adverse reactions, short light protection period, easy nursing, and good efficacy.

Clinical Presentation and the Treatment of Glaucoma in Patients with a Facial Port-wine Stain

PURPOSE: To characterize the development of glaucoma, age of glaucoma onset, and treatments for patients with a facial port-wine stain (PWS). METHODS: We performed a retrospective analysis of the medical records of 58 patients (116 eyes) with facial PWS between January 2000 and August 2016. We noted patients' age at the initial examination, cup-to-disc ratio, corneal diameter, occurrence of ocular hypertension, development of glaucoma, age of glaucoma onset, and treatments. We compared the clinical features of eyes that developed glaucoma with those that did not develop glaucoma. Among those eyes with glaucoma, we investigated the differences between eyes that underwent surgery and those that did not undergo surgery. RESULTS: Among the 58 patients with a facial PWS (116 eyes), glaucoma was diagnosed in 38 patients (46 eyes; 39.66%). Of these, 26 patients (27 eyes; 58.69%) underwent glaucoma surgery. PWS-associated glaucoma usually developed by the age of 2 years (85.61%). In all patients, glaucoma developed on the same side of the face as the PWS. Of the 58 patients, 19 (32.76%) showed neurological symptoms, including seizures, developmental delays, intellectual disabilities, or hemiplegia, and 32 (55.17%) were diagnosed with Sturge-Weber syndrome. The mean number of glaucoma surgeries was 1.55 ± 0.93. The initial surgery included trabeculectomy (7 eyes), trabeculotomy (5 eyes), combined trabeculotomy/trabeculectomy (13 eyes), and aqueous drainage device insertion (2 eyes). The mean age at the first surgery was 35.14 ± 50.91 months. In 18 of 27 eyes (66.67%), the postoperative intraocular pressure (IOP) was controlled to below 21 mmHg, but 9 eyes (33.33%) showed elevated IOP and required a reoperation. CONCLUSIONS: PWS can be accompanied by ocular hypertension or glaucoma, so patients require regular ophthalmic examinations. When glaucoma occurs, it often does not respond to medication, making it difficult in some cases to control the IOP, so appropriate glaucoma surgery is necessary.

Phacomatosis pigmentovascularis of cesioflammea type

Abstract Phacomatosis pigmentovascularis is a rare syndrome, defined as the simultaneous presence of vascular nevus and melanocytic nevus in the same patient. We report the case of a 53-year-old woman presented with dermal melanosis and extensive vascular nevus, which match the typical manifestations of phakomatosis pigmetovascularis of cesioflammea type, according to Happle's classification. The rare occurrence of this genodermatosis and the clinical exuberance of the skin lesions motivated this case report.

A Case of Wyburn-Mason Syndrome with Facial Nevus Flammeus and the Associated Optical Coherence Tomography Findings

PURPOSE: To describe a case of Wyburn-Mason Syndrome, which is a rare phakomatosis, and its associated optical coherence tomography findings. CASE SUMMARY: A 5-year-old boy was referred to our clinic for decreased vision in his right eye. He had nevus flammeus on his right forehead, upper eyelid, and cheek. His best corrected visual acuity was hand motion in the right eye, in which a relative afferent pupillary defect was noted. Fundus examination of the right eye showed marked dilation and tortuosity of retinal vessels, which could not be discriminated between arteries and veins on the posterior pole. Optical coherence tomography showed multiple large intraretinal vessels without involvement of the internal limiting membrane. Cerebral angiography revealed arteriovenous malformations (AVMs) and feeder vessels from the internal carotid artery to the ophthalmic artery, extending to the ethmoidal artery in the nasal cavity. CONCLUSIONS: Wyburn-Mason syndrome is a rare phakomatoses and shows unique retinal AVM. Misdiagnosis or undertreatment of Wyburn-Mason syndrome can lead to serious complications. Patients with facial nevus flammeus should undergo thorough ocular examinations to rule out this disorder. Optical coherence tomography is a useful method for understanding structural features of retinal vascular malformations in Wyburn-Mason syndrome.

Clinical Features of Varicose Vein in Pediatric Population / 소아외과

PURPOSE: Varicose veins requiring operative treatment have been more common recently, but there are not enough studies among children dermographics because most patients belong to the adult population. We concentrated on varicose vein of under 18 years old, and here intend to report cases of our clinical experiences. METHODS: From January 2003 until December 2014, there were 6 children under 18 years old who required varicose vein management. Data was collected by the investigation of medical records retrospectively, including preoperative symptoms, diagnostic tools, treatment methods, results of treatment, and complications. RESULTS: The mean age was 11 years (range, 3-17 years), and gender ratio was 1:2 (2 male, 4 female). The involved legs were on the right in 3 cases, on the left in 2 cases, and on both in 1 case. The most common symptoms were venous bulging and tortuosity in 6 cases, and other symptoms were Klippel-Trenaunay-Weber syndrome in 2 cases, pain and fatigue in 1 case, port-wine stain in 1 case, and telangiectasia in 1 case. Duplex sonography was performed to confirm venous reflux in all cases. The additional venography was performed to check for anatomical variation in 1 case, and three-dimensional CT in 2 cases. Treatments were high ligation and stripping in 3 cases, and endovenous laser therapy in 3 cases. Additionally, remnant varicosities after first operations were treated by endovenous laser therapy in all cases. During the mean postoperative follow-up period of 60 months, complications included edema of the foot and petechia in 2 cases each, and were not severe. CONCLUSION: Operative treatments including high ligation and stripping, and endovenous laser therapy are very effective for the management of varicose vein in the pediatric population, with improvements in quality of life including relief of symptoms and management of the cosmetic aspect.

The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis

Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis.

Bilateral Sturge-Weber syndrome and glaucoma controlled with ahmed valve implant

Sturge-Weber Syndrome is a rare neuro-oculocutaneous disorder. The authors describe the case of a 13 years old boy, presented with bilateral Sturge-Weber Syndrome and glaucoma. Surgical treatment with Ahmed valve implantation in both eyes was carried out achieving lower levels of intraocular pressure.

A síndrome de Sturge-Weber trata-se de uma doença neuro-óculocutânea rara. Os autores relatam o caso de um paciente do sexo masculino, de 13 anos de idade, que se apresentou com Síndrome de Sturge-Weber bilateral e glaucoma. Foi realizado o tratamento cirúrgico com implante de válvula de Ahmed em ambos os olhos e alcançado a redução da pressão intraocular bilateral.

A Tethered Cord with Hemivertebra: A Case Report and Review of Literature

Spinal dysraphisms are defined as open and closed dysraphisms. A hemivertebra is a congenital condition seen in 61% of patients with congenital anomalies. The first report of the excision of a hemivertebra was by Royle in 1928. A sixteen-year-old girl was admitted to our clinic with a congenital stain on the waist and a normal neurological examination. No new cases have been reported in recent literature. Our case, which is also rare, is associated with a tethered cord only and no other congenital abnormalities.

Severe Rhabdomyolysis in Phacomatosis Pigmentovascularis Type IIb associated with Sturge-Weber Syndrome / 대한중환자의학회지

Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by concurrent nevus flammeus (capillary malformation) and pigmentary nevus. According to current research, the major pathophysiologic mechanism in PPV is venous dysplasia with resultant compensatory collateral channels and venous hypertension. Arterial involvement is rare. We herein report our experience on renovascular hypertension, intermittent claudication, and severe rhabdomyolysis due to diffuse stenosis of multiple arteries in a patient with PPV type IIb associated with SWS.

Severe Rhabdomyolysis in Phacomatosis Pigmentovascularis Type IIb associated with Sturge-Weber Syndrome / 대한구급학회지

Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by concurrent nevus flammeus (capillary malformation) and pigmentary nevus. According to current research, the major pathophysiologic mechanism in PPV is venous dysplasia with resultant compensatory collateral channels and venous hypertension. Arterial involvement is rare. We herein report our experience on renovascular hypertension, intermittent claudication, and severe rhabdomyolysis due to diffuse stenosis of multiple arteries in a patient with PPV type IIb associated with SWS.

Cutaneous New World Leishmaniasis on a Port-wine stain birthmark

We present an interesting case report of two sarcoid-like lesions on a port-wine stain (PWS) birthmark in a Brazilian patient which on investigation proved to be cutaneous leishmaniasis.

Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb.

Phakomatosis pigmentovascularis (PPV) is a rare combination of pigmentary and vascular components with or without systemic involvement. We report here a rare association of Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and PPV type IIb in a 15-year-old boy who had right upper limb monoparesis along with a history of recurrent convulsions.

The Incidence of Birthmarks in Korean Newborn Infants

PURPOSE: Birthmarks are commonly observed during neonatal period and its prevalence varies between races and countries. Most skin lesions are transient and not require medical treatment. But some birthmarks have potential medical significance and may be the first sign of systemic medical problems. We carried out a prospective study to determine the prevalence of birthmarks in Korean newborn infants. METHODS: From October 2012 to January 2013, 1,964 Korean newborn infants who were born in Cheil General Hospital, Kwandong University College of Medicine were evaluated for the presence of birthmarks within 48 hours after birth. RESULTS: Among 1,964 newborn infants, 980 (49.9%) infants were male and 984 (50.1%) were female. The most common pigmentary birthmark was Mongolian spot (97.1%), which was mostly presented on sacrogluteal area, and was followed by nevocellular nevi (0.8%), cafe-au-lait spot (0.8%), and sebaceous nevi (0.2%). Among vascular birthmarks, the most common lesion was salmon patch (30.8%), and followed by port-wine stain (0.2%) and hemangioma (0.2%). The common other lesions were sebaceous hyperplasia (37.4%), erythema toxicum neonatorum (10.2%), milia (4.1%), skin appendage (2.6%), anal dimple (1.2%), auricular pit (0.9%), miliaria (0.5%), aplasia cutis congenita (0.2%) in the order of frequency. CONCLUSION: We studied the prevalence of the birthmarks in Korean newborn infants. The most common pigmentary birth mark was mongolian spot, and the most common vascular birthmark was salmon patch in Korean newborn infants.