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Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?
المؤلفون المشاركون
Abdolrahimzadeh, Solmaz
Recupero, Santi Maria
Contestabile, Maria Teresa
Scavella, Vittorio
Felli, Lorenzo
Cruciani, Filippo
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-11، 11ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-09-16
دولة النشر
مصر
عدد الصفحات
11
التخصصات الرئيسية
الملخص EN
The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation.
The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common.
Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis.
Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations.
Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation.
The choroid can be thickened in all diseases.
Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation.
Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Abdolrahimzadeh, Solmaz& Scavella, Vittorio& Felli, Lorenzo& Cruciani, Filippo& Contestabile, Maria Teresa& Recupero, Santi Maria. 2015. Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?. BioMed Research International،Vol. 2015, no. 2015, pp.1-11.
https://search.emarefa.net/detail/BIM-1056720
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Abdolrahimzadeh, Solmaz…[et al.]. Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?. BioMed Research International No. 2015 (2015), pp.1-11.
https://search.emarefa.net/detail/BIM-1056720
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Abdolrahimzadeh, Solmaz& Scavella, Vittorio& Felli, Lorenzo& Cruciani, Filippo& Contestabile, Maria Teresa& Recupero, Santi Maria. Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-11.
https://search.emarefa.net/detail/BIM-1056720
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1056720
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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