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About 737 results

ALLMedicine™ Capillary Malformation Center

Research & Reviews  365 results

Skin-Related Complications of Klippel-Trenaunay Syndrome: A Retrospective Review of 410...
https://doi.org/10.1111/jdv.16999
Journal of the European Academy of Dermatology and Venereology : JEADV; Anderson KR, Nguyen H et. al.

Oct 18th, 2020 - Little is known about skin-related complications in Klippel-Trenaunay syndrome (KTS), a complex vascular anomaly defined by capillary malformation (CM), venous malformation (VM) +/- lymphatic malformation (LM), and limb overgrowth. Reported skin-r...

RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports.
https://doi.org/10.1136/jmedgenet-2019-106792
Journal of Medical Genetics; El Hajjam M, Mekki A et. al.

Sep 9th, 2020 - Background We report two cases of RASA1-related capillary malformation-arteriovenous malformation (CM-AVM1) syndrome mimicking hereditary haemorrhagic telangiectasia (HHT).Methods and results A 28-year-old man, previously embolised for cerebral ar...

Cerebellar dysplasia related to PIK3CA mutation: a three-case series.
https://doi.org/10.1007/s10048-020-00628-z
Neurogenetics Di Stasi M, Izzo G et. al.

Sep 9th, 2020 - The term PROS (PIK3CA-Related Overgrowth Spectrum) indicates a wide spectrum of overgrowth disorders related to somatic mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) pathway. We present three cases wi...

Capillary malformation-arteriovenous malformation syndrome: a multicentre study.
https://doi.org/10.1111/ced.14428
Clinical and Experimental Dermatology References; Valdivielso-Ramos M, Martin-Santiago A et. al.

Aug 25th, 2020 - Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described...

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418424
Orphanet Journal of Rare Diseases; Park HJ, Shin CH et. al.

Aug 11th, 2020 - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). The varying phenotypes and low frequencies of each somatic mosaic variant make confirmative...

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Clinicaltrials.gov  367 results

Skin-Related Complications of Klippel-Trenaunay Syndrome: A Retrospective Review of 410...
https://doi.org/10.1111/jdv.16999
Journal of the European Academy of Dermatology and Venereology : JEADV; Anderson KR, Nguyen H et. al.

Oct 18th, 2020 - Little is known about skin-related complications in Klippel-Trenaunay syndrome (KTS), a complex vascular anomaly defined by capillary malformation (CM), venous malformation (VM) +/- lymphatic malformation (LM), and limb overgrowth. Reported skin-r...

RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports.
https://doi.org/10.1136/jmedgenet-2019-106792
Journal of Medical Genetics; El Hajjam M, Mekki A et. al.

Sep 9th, 2020 - Background We report two cases of RASA1-related capillary malformation-arteriovenous malformation (CM-AVM1) syndrome mimicking hereditary haemorrhagic telangiectasia (HHT).Methods and results A 28-year-old man, previously embolised for cerebral ar...

Cerebellar dysplasia related to PIK3CA mutation: a three-case series.
https://doi.org/10.1007/s10048-020-00628-z
Neurogenetics Di Stasi M, Izzo G et. al.

Sep 9th, 2020 - The term PROS (PIK3CA-Related Overgrowth Spectrum) indicates a wide spectrum of overgrowth disorders related to somatic mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) pathway. We present three cases wi...

Capillary malformation-arteriovenous malformation syndrome: a multicentre study.
https://doi.org/10.1111/ced.14428
Clinical and Experimental Dermatology References; Valdivielso-Ramos M, Martin-Santiago A et. al.

Aug 25th, 2020 - Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described...

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418424
Orphanet Journal of Rare Diseases; Park HJ, Shin CH et. al.

Aug 11th, 2020 - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). The varying phenotypes and low frequencies of each somatic mosaic variant make confirmative...

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News  4 results

Broadly Distributed Vascular Macules in a Pediatric Patient
https://www.mdedge.com/dermatology/article/217276/pediatrics/broadly-distributed-vascular-macules-pediatric-patient?channel=113
Raagini Suresh Yedidi, BS, Jodie Raffi, BA et. al.

Feb 13th, 2020 - The Diagnosis: Capillary Malformation-Arteriovenous Malformation Syndrome Capillary malformation-arteriovenous malformation (CM-AVM) was suspected, and a sample of the patient's blood was sent for a diagnostic genetic workup. DNA sequencing evalua.

Vascular stain birthmark
https://www.mdedge.com/familymedicine/article/197685/dermatology/vascular-stain-birthmark
MDedge Family Medicine; Kathryn Oppenlander, MD, Caleb Dickison, DO

Mar 28th, 2019 - The presence of the large red to purple, well-demarcated patches with a lateral predilection led the FP to diagnose a port-wine-stain. 1,2 Port-wine-stains are a type of capillary malformation that fall under the over-arching category of “simple va.

Violaceous patches on baby’s foot/leg
https://www.mdedge.com/familymedicine/article/197685/dermatology/violaceous-patches-babys-foot/leg?channel=114
MDedge Family Medicine; Kathryn Oppenlander, MD, Caleb Dickison, DO

Mar 28th, 2019 - The presence of the large red to purple, well-demarcated patches with a lateral predilection led the FP to diagnose a port-wine-stain. 1,2 Port-wine-stains are a type of capillary malformation that fall under the over-arching category of “simple va.

Irregular Erythematous Patch on the Face of an Infant
https://www.mdedge.com/dermatology/article/149291/pediatrics/irregular-erythematous-patch-face-infant
Xiaoxiao Catherine Guo, MD, Lisa Ann Blackwood, MD et. al.

Oct 13th, 2017 - The Diagnosis: Phakomatosis Pigmentovascularis With Sturge-Weber Syndrome The erythematous patches were identified as capillary malformations (port-wine stains) and the slate gray pigmentary changes as dermal melanocytosis (Mongolian spots)(Figure.

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Patient Education  1 results see all →