Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Mar 8:102:adv00662.
doi: 10.2340/actadv.v102.1126.

Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review

Anna Trier Heiberg Brix  1 , Pernille Mathiesen Tørring, Anette Bygum
Affiliations
Review

Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review

Anna Trier Heiberg Brix et al. Acta Derm Venereol. .

Abstract

Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary malformations and a risk of associated fast-flow malformations. We describe here a four-generation family with a novel heterozygous pathogenic variant in the EPHB4 gene (NM_004444.5 (EPHB4): c.2224G>C, p.(Ala742Pro)). A review of the literature retrieved 127 patients with capillary malformation-arteriovenous malformation syndrome and confirmed variants in EPHB4. Multiple capillary malformations were present in 114 (89.76%) patients, and 12 (9.44%) patients had a solitary capillary malformation. Arteriovenous malformations/fistulas were present in 23 (18.1%) patients, and were located within the central nervous system in 5 (3.9%) patients. Not all papers included description of epistaxis. Telangiectasias were reported in 28 (22%) patients, and Bier spots were described in 20 (15.7%) patients. The clinical characteristics of capillary malformation-arteriovenous malformation syndrome are diverse and often discrete, which can make it difficult to distinguish capillary malformation-arteriovenous malformation syndrome from hereditary haemorrhagic telangiectasia.

PubMed Disclaimer

Conflict of interest statement

The authors have no conflicts of interest to declare

Figures

Fig. 1
Fig. 1
Pedigree of the four-generation family with capillary malformation-arteriovenous malformation syndrome-2. Solid shading: affected; +: carrier of the heterozygote variant; -: tested, not carrier.
Fig. 2
Fig. 2
(A) Bier spots and telangiectasia with white halo (P1). (B) Perioral telangiectasia through a dermoscope (P2). ( C) Naevus araneus under right eye (P1). (D) CM on left knee (P1). (E) Perioral telangiectasia (P2). (F) Arteriovenous malformation in the palate (P4).
See this image and copyright information in PMC

References

    1. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe, Set al. . Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003; 73: 1240–1249. - PMC - PubMed
    1. Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, et al. . Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation 2017; 136: 1037–1048. - PubMed
    1. Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, et al. . RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 2013; 34: 1632–1641. - PubMed
    1. Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA. Capillary malformation-arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. Pediatr Dermatol 2013; 30: 409–415. - PubMed
    1. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, et al. . Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008; 29: 959–965. - PubMed

MeSH terms

Substances

Supplementary concepts