Capillary Malformation—Arteriovenous Malformation Syndrome: Review of the Literature, Proposed Diagnostic Criteria, and Recommendations for Management

Orme, Charisse M.; Boyden, Lynn M.; Choate, Keith; Antaya, Richard J.; King, Brett

doi:10.1111/pde.12112

Cited by 57 publications

(75 citation statements)

References 33 publications

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“…The rather small, disseminated lesions are of round or oval shape and frequently surrounded by a pale halo (Fig. ) . Most rhodoid naevi are present at birth.…”

Section: Capillary Naevimentioning

confidence: 99%

Capillary malformations: a classification using specific names for specific skin disorders

Happle

2015

Acad Dermatol Venereol

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The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Capillary lesions that perhaps represent naevi are the mesotropic port-wine patch, Carter-Mirzaa macules, unilateral punctate telangiectasia and unilateral naevoid telangiectasia of the patchy type. Capillary malformations that do not represent naevi include X-linked angiokeratoma corporis diffusum (Fabry disease), autosomal dominant angiokeratoma corporis diffusum, hereditary haemorrhagic telangiectasia, hereditary angioma serpiginosusm and the salmon patch. In this way, we are able to discriminate between various non-hereditary capillary naevi such as naevus roseus and the hereditary rhodoid naevus and several hereditary traits that do not represent naevi such as angiokeratoma corporis diffusum and hereditary haemorrhagic telangiectasia; between four different types of port-wine stains, three of them being lateralized and one being mesotropic; between cutis marmorata telangiectatica congenita and congenital livedo reticularis; between telangiectatic naevi and the vasoconstrictive naevus anaemicus; and between two different types of angiokeratoma corporis diffusum. Finally, arguments are presented why the salmon patch ('stork bite', 'naevus simplex') cannot be categorized as a naevus.

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“…The rather small, disseminated lesions are of round or oval shape and frequently surrounded by a pale halo (Fig. ) . Most rhodoid naevi are present at birth.…”

Section: Capillary Naevimentioning

confidence: 99%

Capillary malformations: a classification using specific names for specific skin disorders

Happle

2015

Acad Dermatol Venereol

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“…As large CMs (up to 15 cm in diameter) can appear, and the reported number of CMs in individual cases can range from one to 60 lesions, evidence of RASA1 mutation or familial history of CMs or AVMs allows the diagnosis of doubtful cases. In addition, probable or definitive diagnostic categories have been proposed for this entity …”

Section: Discussionmentioning

confidence: 99%

“…The disease was first recognized and named by Eerola et al . in 2003, and recently diagnostic criteria and management recommendations have been proposed . Moreover, two novel clinical features have been identified: cutaneous zones of numerous small white pale halos with a central punctate red spot, and naevus anemicus .…”

mentioning

confidence: 99%

Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome

et al. 2014

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“…Regardless of the treatment modality chosen, the ultimate goal is complete occlusion to prevent long-term recurrence. Long-term surveillance data on this entity is limited, but recurrence has certainly been hypothesized in the literature [16] . As stated above, threshold of further imaging should be kept low [17] .…”

Section: Discussionmentioning

confidence: 99%

Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with <b><i>RASA1</i></b> Mutation: 2 Pediatric Cases with Successful Surgical Management

Chugh

Shahid²,

Manjila³

et al. 2017

Pediatr Neurosurg

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We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body. Patient 2 presented with proptosis at the age of 9 months, but was otherwise neurologically intact. Given the chance for definitive single-stage control of vascular shunt (obviating chances for radiation exposure with endovascular treatment) and surgically accessible location of these intracranial lesions, both patients were treated with surgery with excellent clinical and radiological outcome. In general, given the high mortality secondary to severe congestive heart failure when treated conservatively, the goal of treatment in cortical AVF in young children, even when asymptomatic, is rapid control of the shunt. This was achieved successfully in our cases - both patients experienced significant symptomatic improvement following surgery and remained neurologically stable in the subsequent follow-up visits.

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Capillary Malformation—Arteriovenous Malformation Syndrome: Review of the Literature, Proposed Diagnostic Criteria, and Recommendations for Management

Cited by 57 publications

References 33 publications

Capillary malformations: a classification using specific names for specific skin disorders

Capillary malformations: a classification using specific names for specific skin disorders

Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome

Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with <b><i>RASA1</i></b> Mutation: 2 Pediatric Cases with Successful Surgical Management

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