Two Reports of Phacomatosis Pigmentovascularis Type Iib, One in Association with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

2010 ◽  
Vol 27 (3) ◽  
pp. 303-305 ◽  
Author(s):  
Lindsey B. Finklea ◽  
Melinda R. Mohr ◽  
Molly M. Warthan ◽  
David H. Darrow ◽  
Judith V. Williams
Keyword(s):  
Phacomatosis Pigmentovascularis ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Klippel Trenaunay Syndrome

scholarly journals HEAD TRAUMA IN A CHILD WITH STURGE-WEBER SYNDROME OVERLAPPING KLIPPEL-TRENAUNAY SYNDROME

2021 ◽  
Vol 60 (1) ◽  
pp. 74-78
Author(s):  
Aleksandar Kostić ◽  
Tatijana Tošić ◽  
Radisav Mitić ◽  
Miša Radisavljević ◽  
Predrag Milošević ◽  
...  
Keyword(s):  
Head Trauma ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Klippel Trenaunay Syndrome

scholarly journals Severe Rhabdomyolysis in Phacomatosis Pigmentovascularis Type IIb associated with Sturge-Weber Syndrome

2015 ◽  
Vol 30 (4) ◽  
pp. 329-335 ◽  
Author(s):  
Bongjin Lee ◽  
Hyung Joo Jeong ◽  
Yu Hyeon Choi ◽  
Chong Won Choi ◽  
June Dong Park
Keyword(s):  
Phacomatosis Pigmentovascularis ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals A case of overlapping of Sturge Weber syndrome-Klippel Trenaunay syndrome and ophthalmological findings

TURKDERM ◽  
2016 ◽  
Vol 50 (4) ◽  
pp. 160-162
Author(s):  
Ersin Aydın ◽  
Yakup Aksoy ◽  
Ercan Karabacak ◽  
Bilal Doğan ◽  
Murat Velioğlu ◽  
...  
Keyword(s):  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Klippel Trenaunay Syndrome

scholarly journals Overlapping of Sturge Weber syndrome and Klippel Trenaunay syndrome: A new case report

2018 ◽  
Vol 9 (1) ◽  
pp. 101-102
Author(s):  
Imane Alouani ◽  
Houssam Bkiyar ◽  
Siham Dikhaye ◽  
Brahim Housni ◽  
Nada Zizi
Keyword(s):  
Case Report ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Klippel Trenaunay Syndrome

scholarly journals Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

2015 ◽  
Vol 2015 ◽  
pp. 1-11 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Vittorio Scavella ◽  
Lorenzo Felli ◽  
Filippo Cruciani ◽  
Maria Teresa Contestabile ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
Venous Pressure ◽  
Pik3ca Mutation ◽  
Hereditary Diseases ◽  
Independent Group ◽  
Port Wine Stain ◽  
Port Wine ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Klippel Trenaunay Syndrome

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.

scholarly journals Sturge Weber Syndrome Overlapping with Klippel Trenaunay Syndrome

2013 ◽  
Vol 33 (2) ◽  
pp. 147-149
Author(s):  
Shatanik Sarkar ◽  
Chaitali Patra ◽  
Chandrasekhar Dey ◽  
Malay Kumar Dasgupta ◽  
Tapan Kumar Kundu
Keyword(s):  
Soft Tissue ◽  
Varicose Veins ◽  
Cerebral Calcification ◽  
Rare Type ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome ◽  
Klippel Trenaunay Syndrome

Sturge Weber syndrome (SWS) is a mesodermal phakomatosis characterized by meningo-facial angiomas with cerebral calcification. Klippel Trenaunay syndrome (KTS) is another very rare type of phakomatosis with cutaneous angiomas, varicose veins and enlargement of soft tissue or bones. Overlap between SWS & KTS is very rarely encountered. We report a three and half year old girl with overlapping features of both SWS and KTS. DOI: http://dx.doi.org/10.3126/jnps.v33i2.7704 J Nepal Paediatr Soc. 2013; 33(2):147-149

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