Phakomatosis Pigmentovascularis Coexisting with a Variant of Sturge Weber Syndrome - A Rare Occurrence
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چکیده
منابع مشابه
Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome
UNLABELLED Aim. To report a case of bilateral Sturge-Weber and Phakomatosis pigmentovascularis with secondary glaucoma in a child. Method. CASE REPORT Results. A 4-year-old male child was referred to us for control of intraocular pressure (IOP). Sleeping IOP was 36 mm Hg in right eye and 28 mm Hg in the left eye. The sclera of both the eyes showed bluish black pigmentation-melanosis bulbi. Fu...
متن کاملPhakomatosis Pigmentovascularis Associated With Sturge–Weber Syndrome, Ota Nevus, and Congenital Glaucoma
Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge-Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves...
متن کاملAn Infantile Case of Sturge-Weber Syndrome in Association with Klippel-Trenaunay-Weber Syndrome and Phakomatosis Pigmentovascularis
Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a...
متن کاملOphthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?
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...
متن کاملSturge-Weber syndrome coexisting with episodes of rhabdomyolysis
BACKGROUND Sturge-Weber syndrome is a congenital neurocutaneous disorder characterized by facial port-wine stain, leptomeningeal angioma, and neurological disorders. Sturge-Weber syndrome can coexist with other disorders in a few patients; however, muscular abnormalities have not been reported in patients with Sturge-Weber syndrome. CASE PRESENTATION A Chinese girl presented with extensive po...
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ژورنال
عنوان ژورنال: Delhi Journal of Ophthalmology
سال: 2019
ISSN: 0972-0200
DOI: 10.7869/djo.422