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2015 ; 2015
(ä): 786519
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English Wikipedia
Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome,
and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?
#MMPMID26451379
Abdolrahimzadeh S
; Scavella V
; Felli L
; Cruciani F
; Contestabile MT
; Recupero SM
Biomed Res Int
2015[]; 2015
(ä): 786519
PMID26451379
show ga
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.