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Capillary Malformation - Arteriovenous Malformation Syndrome

CM-AVM


Presentation

  • The objective of this study was to describe the clinical characteristics of children presenting with features of CM-AVM to an academic pediatric dermatology practice.[ncbi.nlm.nih.gov]
  • We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome.[ncbi.nlm.nih.gov]
  • We present the case of a child with RASA1-negative CM-AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis.[ncbi.nlm.nih.gov]
  • We describe the histopathologic and corresponding ultrasound and Doppler findings in a CM from a patient with clinical CM-AVM syndrome and show that an arterial component is not present in the dermis or the most superficial portions of the subcutaneous[ncbi.nlm.nih.gov]
  • CM-AVMs can present in many different ways, or can be a combination of several different types of lesions.[luriechildrens.org]
Erythema
  • Bier spots are transient, small pale macules with an irregular border and surrounding blanching halo of erythema (redness). They are most common on arms and legs, and become less visible or disappear on raising the affected limb.[dermnetnz.org]
Neck Pain
  • Patients usually complain of hearing a continuous noise (bruit) that occurs with each heartbeat, local pain behind the ear, headaches and neck pain. Sagittal sinus and scalp dural fistula. These occur toward the top of the head.[strokeassociation.org]
Eye Swelling
  • Patients have eye swelling, decreased vision, redness and congestion of the eye. They often can hear a “swishing” noise. Transverse-Sigmoid sinus dural fistula. These occur behind the ear.[strokeassociation.org]
Suggestibility
  • Our results suggest that this typical biphasic pattern on dermoscopy may be useful for the diagnosis of CM-AVM syndrome. 2016 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • Hypotrichosis on the CMs suggests that RASA1 gene mutations could be involved in the hair follicle proliferation and cell cycle. 2014 British Association of Dermatologists.[ncbi.nlm.nih.gov]
  • […] thrombolytic agents in children Stresses the etiology and pathophysiology of childhood stroke as the basis for evaluation and treatment Maintains the practical, clinical flavor established in previous editions, with numerous illustrations and useful suggestions[books.google.com]
  • As such when reporting these lesions we suggest using the modern ISSVA terminology, followed in brackets by the "traditional" term.[radiopaedia.org]
  • Occasional familial segregation of CM suggests that there is genetic susceptibility, underscored by the identification of a large locus, CMC1, on chromosome 5q.[ncbi.nlm.nih.gov]

Treatment

  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • Treatment Treatment for patients with CM-AVM syndrome may include laser therapy for the capillary malformation. It may also include treatment for the arteriovenous malformations, which depends on the location of the malformation.[texaschildrens.org]
  • What is the best treatment for a dural fistula? The best treatment is usually endovascular surgical blocking of the abnormal connections that have caused the fistula.[strokeassociation.org]
  • Most patients (89%) have not required treatment to date. CM-AVM is an underrecognized condition with a wide clinical spectrum that often presents in childhood. Further evaluation may be indicated in patients with multiple CMs.[ncbi.nlm.nih.gov]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]

Prognosis

  • This is an important distinction as it provides an indication of prognosis and therapeutic options.[infona.pl]
  • It is important to differentiate lymphedema–capillary malformation from Klippel–Trenaunay and Parkes Weber syndromes because the prognosis and treatment are different.[journals.lww.com]
  • What is the prognosis for patients managed in the recommended ways? Pulmonary arteriovenous malformations (PAVMs) PAVMs generally slowly increase in size over time, and they rarely spontaneously regress.[clinicaladvisor.com]

Etiology

  • […] malformation-arteriovenous malformation (CM-AVM) syndrome, due to inactivating mutations in RASA1 in 68% of cases, is characterized by the development of cutaneous capillary malformations and arteriovenous malformations or fistulas; no known genetic etiology[ncbi.nlm.nih.gov]
  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • Some patients with lymphedema–capillary malformation in our series seemed to have a sporadic capillary malformation without evidence of lymphatic etiology, whereas others had a stain that contained lymphatic vesicles.[journals.lww.com]

Epidemiology

  • Clin Neuroradiol 20:5–24 Google Scholar Laakso A, Hernesniemi J (2012) Arteriovenous malformations: epidemiology and clinical presentation.[link.springer.com]
  • […] coils, particles, acrylates, or polymers introduced by a radiographically guided catheter, may be used in addition to neurosurgery or radiosurgery, but is rarely successful in isolation except in smaller AVMs. [15] Gamma knife may also be used. [16] Epidemiology[en.wikipedia.org]
  • The epidemiology of HHT is poorly understood. The estimated prevalence is one in 5000-8000.[clinicaladvisor.com]
Sex distribution
Age distribution

Pathophysiology

  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • An additional question addressed in this study was the {"}second-hit{"} hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available.[scholars.northwestern.edu]
  • Stroke: Pathophysiology, Diagnosis, and Management. 5th ed. Philadelphia: Churchill Livingstone Elsevier; 2011. p. 169-186.[rarediseases.org]
  • Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 2003;18:509–16. PubMed CrossRef Google Scholar 27. Tallman B, Tan OT, Morelli JG, et al.[link.springer.com]
  • Shovlin CL (2010) Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Reviews 24(6): 203–219.[els.net]

Prevention

  • Managing high blood pressure, avoiding medications that thin the blood, and keeping regular appointments with a neurologist can also help monitor your condition and prevent complications.[healthline.com]
  • Laser therapy may also prevent the skin from thickening over time. The outcome with laser is better in the facial area than on the trunk or limbs.[cincinnatichildrens.org]
  • The focus of conservative management is relief of symptoms and prevention of complications. In most cases compression therapy is the single most important measure. Authors User assignment Assign yourself or invite other person as author.[infona.pl]
  • Cerebral and spinal AVMs are thought to be genetic in origin, so they cannot be prevented.[weillcornellbrainandspine.org]

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