Ectatic Blood Vessels in Port-Wine Stains Lack Innervation

Rydh, Malin; Malm, Mats; Jernbeck, Jan; Dalsgaard, C.‐J.

doi:10.1097/00006534-199103000-00003

Cited by 103 publications

(57 citation statements)

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“…16 In contrast, studies using antibodies against neuronal cytoplasmic protein (PGP 9.5), neuronspecific enolase (NSE), and S100 protein have demonstrated that the density of cutaneous nerves is significantly decreased in CM. 17,18 These findings support the hypothesis that the gradual dilatation of the dermal vessels is the result of abnormal neural regulation of blood flow. 17 However, the decreased density of cutaneous nerves can be a secondary effect due to reduced blood flow and chronic ischemia in the lesions.…”

Section: Introductionsupporting

confidence: 75%

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

et al. 2002

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Capillary malformation (CM; 'port-wine stain'), is a common vascular malformation affecting cutaneous capillary vessels in 0.3% of newborns. Increased incidence of lesions in first-degree relatives of these patients and several reported familial cases suggest that genetic factors may play a role in the pathogenesis of CM. We report the first genome-wide linkage analysis of familial CM. In the non-parametric linkage analysis, strong evidence of linkage (peak Z-score 6.72, P-value 0.000136) was obtained in an interval of 69 cM between markers D5S407 and D5S2098, corresponding to 5q11 -5q23. Parametric linkage analysis gave a maximum combined HLOD score of 4.84 (a-value 0.67) at marker D5S2044 on 5q15, and analysis using only the linked families, defined a smaller, statistically significant locus CMC1 of 23 cM (peak LOD score 7.22) between markers D5S1962 and D5S652 corresponding to 5q13 -5q15. Interesting candidate genes implicated in vascular and neural development, such as MEF2C, RASA1, and THBS4, are in this locus.

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Section: Introductionsupporting

confidence: 75%

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

et al. 2002

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“…The pathogenesis of this vascular dilatation is unknown but previous studies have proposed a reduction in neural innervation in areas of skin with port wine stain involvement. [5][6][7] Our confocal images confirm a significant decrease in nerve density from samples of both untreated and treated (po0.01) port wine stain skin compared to uninvolved skin. Our findings add support to the theory that port wine stain vascular ectasia may result from decreased neural innervation.…”

Section: Discussionsupporting

confidence: 58%

“…4 Previous studies proposed that the pathogenesis of port wine stain is related to a reduction of neural innervation around the ectatic blood vessels. [5][6][7][8][9] The neural defect is likely to be autonomic in nature because there is no sensory loss within port wine stain. Blood flow in the absence of tonic modulation is thought to produce port wine stain vascular ectasia.…”

Section: Mona M Selim Md Kristen M Kelly Md J Stuart Nelson Mmentioning

confidence: 99%

Confocal Microscopy Study of Nerves and Blood Vessels in Untreated and Treated Port Wine Stains: Preliminary Observations

et al. 2004

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Background and Objective. Vascular ectasia in port wine stain birthmarks (PWS) might result from reduced innervation with loss of autonomic stimulation. We investigated this theory and evaluated nerve and blood vessel density, and mean blood vessel size in untreated and treated PWS skin. Methods. Skin biopsy specimens were obtained from uninvolved skin, untreated PWS, PWS with a good response to laser treatment and PWS with a poor response to laser treatment. Confocal microscopy was performed to determine nerve and blood vessel density, and mean blood vessel size. Results. Nerve density was significantly decreased in all PWS sites compared to uninvolved skin. Mean blood vessel diameter was larger in untreated compared to treated PWS. PWS with a good response to treatment had decreased nerve density but blood vessel density and mean diameter was relatively normal. PWS with a poor response to treatment had decreased nerve density but increased blood vessel density and mean blood vessel diameter compared to normal skin. Conclusion. Nerve density was decreased in all evaluated PWS sites and this may be a factor in lesion pathogenesis. PWS blood vessel size correlated with pulsed dye laser response and may prove to be a useful prognostic indicator of therapeutic outcome.

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“…Cunha e Sa et al (28) demonstrated that malformed cortical vessels in SWS are innervated only by noradrenergic sympathetic nerve fibers. In addition, blood vessels in portwine stains have been shown to lack innervation (29,30). We speculate that abnormal regulation of fibronectin expression during vascular development could have a potential role in producing the abnormal vascular innervation found in SWS tissues.…”

mentioning

confidence: 87%

Increased Fibronectin Expression in Sturge-Weber Syndrome Fibroblasts and Brain Tissue

et al. 2003

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Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that presents with a facial port-wine stain and a leptomeningeal angioma. Fibronectin expression regulates angiogenesis and vasculogenesis and participates in brain tissue responses to ischemia and seizures. We therefore hypothesized that abnormal gene expression of fibronectin and other extracellular matrix genes would be found in SWS brain tissue and SWS port-wine skin fibroblasts. Fibronectin gene and protein expression from port-wine-derived fibroblasts were compared with that from normal skin-derived fibroblasts of four individuals with SWS using microarrays, reverse transcriptase-PCR, Western analysis, and immunocytochemistry. Fibronectin gene and/or protein expression from eight SWS surgical brain samples was compared with that in two surgical epilepsy brain samples and six postmortem brain samples using microarrays, reverse transcriptase-PCR, and Western analysis. The gene expression of fibronectin was significantly increased (p Ͻ 0.05) in the SWS port-wine-derived fibroblasts compared with that of fibroblasts from SWS normal skin. A trend for increased protein levels of fibronectin in port-wine fibroblasts was found by Western analysis. No difference in the pattern of fibronectin staining was detected. The gene expression of fibronectin was significantly increased (p Ͻ 0.05), and a trend for increased fibronectin protein expression was found in the SWS surgical brain samples compared with the postmortem controls. These results suggest a potential role for fibronectin in the pathogenesis of SWS and in the brain's response to chronic ischemic injury in SWS. The reproducible differences in fibronectin gene expression between the SWS port-wine-derived fibroblasts and the SWS normal skin-derived fibroblasts are consistent with the presence of a hypothesized somatic mutation underlying SWS. Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that classically presents with a facial port-wine stain, in the ophthalmic distribution of the trigeminal nerve, associated with an ipsilateral leptomeningeal angioma. Children and adults with SWS often develop progressive neurologic problems, including difficult-to-control seizures, migraines, stroke-like episodes, mental retardation, and hemiparesis. Treatment for SWS is largely symptomatic and directed at the control of seizures with anticonvulsants or surgery (1, 2). SWS occurs almost entirely sporadically and with equal frequency in the sexes (3). The genetic or environmental/ prenatal factors resulting in the disorder are not known. The localized abnormalities of blood vessel development and function affecting the facial skin, eye, and brain suggests a developmental disruption that occurs in the first trimester of pregnancy (4). Somatic mutation has been cited as the probable cause of SWS, given the localized, asymmetric abnormality of blood vessel formation (5). However, the putative mutation is unknown, and other molecular mechanisms are possible. No animal model for SWS exists at this time.Histologic s...

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Ectatic Blood Vessels in Port-Wine Stains Lack Innervation

Cited by 103 publications

References 0 publications

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

Confocal Microscopy Study of Nerves and Blood Vessels in Untreated and Treated Port Wine Stains: Preliminary Observations

Increased Fibronectin Expression in Sturge-Weber Syndrome Fibroblasts and Brain Tissue

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