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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 malformationarteriovenous malformation syndrome from hereditary haemorrhagic telangiectasia. [ABSTRACT FROM AUTHOR]

Hereditary angioedema (HAE) is a rare genetic disorder characterised by recurrent swellings involving subcutaneous and submucosal tissue that can be potentially life threatening in cases involving the upper airway. In this case report, we present a Syrian refugee family with HAE who have lived in Denmark since 2014. The index patient is an 8-year- old girl diagnosed with HAE after being hospitalised in Denmark with an angioedema attack. Her younger sister and father were diagnosed later, following investigation of the family. Exploring the family history, deaths due to suffocation were described in previous generations and other family members based in Sweden, Germany, Turkey, Saudi Arabia, USA and Syria could also potentially be affected. This highlights the need for a cross-border effort to diagnose and treat this inherited disorder. [ABSTRACT FROM AUTHOR]

In this review, the importance of correct diagnosis of glomuvenous malformations (GVM) is emphasised, and different treatment modalities are discussed. GVM are simple venous malformations located in the skin and subcutis, and GVM has a characteristic blue to reddish cobblestone-like appearance with not fully compressible elements, which can be associated with pain on palpation. Clinically, GVM differ from blue rubber bleb naevus syndrome and common/familial cutaneo-mucosal venous malforma-tions in appearance, compressibility and in having a normal D-dimer concentration.

This case report describes three different cases of glomuvenous malformations, which is a rare, autosomal dominant inherited cutaneous venous disease. There is a broad variation in the clinical appearance of these lesions, from flat blue elements to raised purple element with cobblestone appearance. One of the patients in this report experienced intense pain in her lesions, but after surgical resection the pain resolved. All diagnoses were confirmed with biopsy. If in doubt of the diagnosis, biopsy of vascular lesions is important.