Vascular malformations

Garzon, María C.; Huang, Jennifer T.; Enjolras, O; Frieden, Ilona J.

doi:10.1016/j.jaad.2006.05.066

Cited by 203 publications

(45 citation statements)

References 177 publications

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“…Laser treatment is also thought to reduce the long-term risk of soft and bony tissue hypertrophy and the attendant functional impairments related to swallowing, speaking, breathing, vision, and hearing [43]. The current method for lightening port-wine birthmarks is the flashlamp-pumped PDL, which targets the port-wine vasculature without affecting the surrounding epidermis or dermis [44]. While PDL can significantly lighten the majority of port-wine birthmarks, it is most effective when the birthmark is pink and flat, and thus when begun in infancy, and frequently requires maintenance treatments on an ongoing basis [45, 46].…”

Section: Treatmentmentioning

confidence: 99%

“…Some port-wine birthmarks are “PDL resistant” and do not lighten with this current therapy [47]. For others, progressive lightening ends after six to ten treatments, so newer and more effective lasers are being researched to meet these needs [44]. Research is also underway to evaluate the combination of laser treatment with an mTOR inhibitor or other anti-angiogenesis agents and in the future this approach may provide more effective management [48*].…”

Section: Treatmentmentioning

confidence: 99%

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Sturge-Weber Syndrome

Bachur

Comi

2013

Curr Treat Options Neurol

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Section: Treatmentmentioning

confidence: 99%

Section: Treatmentmentioning

confidence: 99%

Sturge-Weber Syndrome

Bachur

Comi

2013

Curr Treat Options Neurol

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“…Later studies conducted by Happle suggest that the inheritance of a single abnormal gene could explain the development of this syndrome, as well as the occurrence of sporadic and familial cases. [34] Although KTS is a sporadic condition, studies report familial cases of KTS that have not been inherited in a Mendelian pattern, suggesting a multifactorial inheritance.…”

Section: Discussionmentioning

confidence: 99%

A rare presentation of Klippel-Trenaunay syndrome

Karim

Singh

Nanda

2014

Indian Dermatol Online J

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The Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by capillary malformation, varicosities and bony and soft tissue hypertrophy. This disease has several morbidities like bleeding, deep venous thrombosis, embolic complications and in some cases enlargement of limb that may require amputation. Vascular malformations are segmented and never cross midline. However, we came across a case, a 45-year-old male, who presented with varicosity of veins and deformity of left lower limb besides cavernous hemangiomas (port-wine stains) scattered all over his face, chest, back, gluteal region, groin and legs since birth. Multiple paravertebral soft tissue masses and bladder hypertrophy were also noted due to involving neurofibromatosis. Simultaneous occurrence of KTS and neurofibromatosis is rarely seen in clinical practice.

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“…The most common manifestation, present in 98% of patients, is capillary malformation, which is represented by cutaneous hemangiomas or a port-wine stain [29, 36]. These lesions usually affect the hypertrophied limb, and when they occur in the trunk region, they rarely cross the midline [29, 37–39]. Varicose veins are also present in most patients with Klippel-Trenaunay-Weber syndrome, and they are more evident during adolescence and affect both the superficial and deep venous systems [26, 29].…”

Section: Klippel-trenaunay-weber Syndromementioning

confidence: 99%

Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

Lacerda

Alves

Zanier

et al. 2014

Radiology Research and Practice

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Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung's disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions.

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Vascular malformations

Cited by 203 publications

References 177 publications

Sturge-Weber Syndrome

Sturge-Weber Syndrome

A rare presentation of Klippel-Trenaunay syndrome

Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

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