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

Abstract

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.

Phakomatosis pigmentovascularis type IIb: A case with Klippel–Trenáunay syndrome and extensive dermal melanocytosis as nevus of Ota, nevus of Ito and ectopic Mongolian spots

“…2 Although a previous study reported that Klippel-Tr enaunay syndrome was associated with PPV type II in two of 24 cases (8.3%), most reports describe the pigmentary lesions as one or two types of dermal melanocytosis such as nevus of Ota and ectopic Mongolian spots. [2][3][4][5] In our case, the dermal melanocytosis was extensive and showed a variety in that the pigmentary lesions on his left face could be described as nevus of Ota, those on his right shoulder as nevus of Ito, and those on his right back, chest and abdomen as ectopic Mongolian spots (Fig. 1m).…”

Oral healthcare management of a child with phakomatosis pigmentovascularis associated with bilateral Sturge‐Weber syndrome

“…Glaucoma has been cited as a common alteration associated with SWS and was one of the conditions diagnosed in this patient. Treatment with topical antiglaucoma medications is sometimes sufficient to control intraocular pressure, but not in this case, since the child was diagnosed late and was in an advanced glaucoma stage, requiring surgical intervention.…”

Port-wine stain as a clue for two rare coexisting entities

“…The presence of oculodermal or fundus melanocytosis encompasses a greater risk to develop melanoma. Iris mammillations can also be found, sometimes mimicking Lisch nodules typical of neurofibromatosis type 1 12. Congenital or acquired glaucoma is another condition to be aware, since intraocular pressure is increased due to ocular melanocytosis and nevus flammeus, when it appears in the ocular region 13…”