Klippel–Trenaunay Syndrome

Stickler, Gunnar B.

doi:10.1016/b978-0-409-90018-7.50046-3

Cited by 6 publications

(3 citation statements)

References 21 publications

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“…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 ].…”

Section: Klippel-trenaunay Syndromementioning

confidence: 99%

“…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.…”

Section: Klippel-trenaunay Syndromementioning

confidence: 99%

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

Abdolrahimzadeh

Scavella

Felli³

et al. 2015

BioMed Research International

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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.

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Section: Klippel-trenaunay Syndromementioning

confidence: 99%

Section: Klippel-trenaunay Syndromementioning

confidence: 99%

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

Abdolrahimzadeh

Scavella

Felli³

et al. 2015

BioMed Research International

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“…The following three traits were used for the search in the database: asymmetry of the body, capillary hemangioma and syndactyly. The only diagnosis in the database that contained the combination of these traits was the Klippel-Trenaunay syndrome, KTS (7).…”

mentioning

confidence: 99%

The Diagnosis of Syndromes by Use of a Dysmorphology Database

Strømme

1991

Acta Paediatrica

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A dysmorphology data base can be useful for the clinician in the task of diagnosing multiple malformation syndromes in children. In this article the database POSSUM is described. Four patients with multiple anomalies referred for diagnostic syndrome evaluation are presented. They serve as examples on how POSSUM efficiently can be applied to obtain a short list of appropriate alternative syndromes, subsequently followed by a discussion on the differential diagnosis in each case. A specific, rare syndrome was diagnosed with the aid of POSSUM in all four cases. POSSUM appears to be useful for the diagnosis of dysmorphic syndromes.

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