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

Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM - Biomed Res Int (2015)

Bottom Line: 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.Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmology Unit, DAI Head/Neck, Umberto I Policlinic, University of Rome "Sapienza", Viale del Policlinico 155, 00161 Rome, Italy.

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.

No MeSH data available.


Related in: MedlinePlus

Soft-tissue and bony hypertrophy of the lower limb in a patient with Klippel-Trenaunay Syndrome from [7].
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fig4: Soft-tissue and bony hypertrophy of the lower limb in a patient with Klippel-Trenaunay Syndrome from [7].

Mentions: The condition is commonly seen at birth or early childhood and appears with a PWS, which is present in 98% of patients [85, 86]. Varicose veins are seen more frequently during adolescence and can involve both the deep and superficial venous plexuses; these can be complicated by lymphedema, thrombophlebitis, and ulcers [87]. The cutaneous alteration can be limited to the skin or involve organs such as the colon, liver, spleen, or bladder and can lead to internal hemorrhage [80]. Hypertrophy of soft tissues and bone is more frequently for the lower limbs but any part of the body can be affected with variable extension, which can even be limited to only the fingers or toes or may be severe with massive limb overgrowth [87, 88]. Mental retardation can be encountered especially when patients present hemangiomas of the face and head. Diagnosis of the disease is when at least two signs among the following are present: PWS, varicose veins, soft-tissue, and/or or bony hypertrophy but 63% of diagnosed patients present all three symptoms [89] (Figure 4).


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

Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM - Biomed Res Int (2015)

Soft-tissue and bony hypertrophy of the lower limb in a patient with Klippel-Trenaunay Syndrome from [7].
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4588354&req=5

fig4: Soft-tissue and bony hypertrophy of the lower limb in a patient with Klippel-Trenaunay Syndrome from [7].
Mentions: The condition is commonly seen at birth or early childhood and appears with a PWS, which is present in 98% of patients [85, 86]. Varicose veins are seen more frequently during adolescence and can involve both the deep and superficial venous plexuses; these can be complicated by lymphedema, thrombophlebitis, and ulcers [87]. The cutaneous alteration can be limited to the skin or involve organs such as the colon, liver, spleen, or bladder and can lead to internal hemorrhage [80]. Hypertrophy of soft tissues and bone is more frequently for the lower limbs but any part of the body can be affected with variable extension, which can even be limited to only the fingers or toes or may be severe with massive limb overgrowth [87, 88]. Mental retardation can be encountered especially when patients present hemangiomas of the face and head. Diagnosis of the disease is when at least two signs among the following are present: PWS, varicose veins, soft-tissue, and/or or bony hypertrophy but 63% of diagnosed patients present all three symptoms [89] (Figure 4).

Bottom Line: 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.Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmology Unit, DAI Head/Neck, Umberto I Policlinic, University of Rome "Sapienza", Viale del Policlinico 155, 00161 Rome, Italy.

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.

No MeSH data available.


Related in: MedlinePlus