Continuing Medical Education
Vascular malformations: Part II: Associated syndromes

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Cutaneous vascular malformations are rare disorders representing errors in vascular development. These lesions occur much less commonly but are often confused with the common infantile hemangioma. It is important to properly diagnose vascular malformations because of their distinct differences in morbidity, prognosis and treatment. Vascular malformations may be associated with underlying disease or systemic anomalies. Several of these syndromes are well defined and can often be distinguished on the basis of the flow characteristics of the associated vascular malformation.

Learning objective

At the completion of this learning activity, participants should be able to better recognize underlying diseases or systemic anomalies that may be associated with vascular malformations. Participants should also better understand the various syndromes and conditions discussed and become more familiar with their management.

Section snippets

Definition

Sturge-Weber syndrome (SWS) is a sporadic congenital disorder characterized by a dermal capillary malformation (port-wine stain) occurring in association with vascular malformations of the leptomeninges and the eye. The major extracutaneous symptoms include seizures, hemiplegia, mental retardation, and glaucoma.

Sturge1 first described a patient with epilepsy, a facial capillary malformation, and buphthalmos in 1879. He speculated that the patient's seizures were caused by an underlying vascular

Definition and clinical characteristics

Wyburn-Mason syndrome (Bonnet-Dechaume-Blanc syndrome) was first reported by Bonnet and his coauthors in 1937 and was later reported in the English-language literature by Wyburn in 1943.118, 119 These terms are generally considered to be synonymous. This rare syndrome is characterized by cerebral AVMs that usually involve the midbrain, an ipsilateral retinal vascular malformation, and a red stain of the facial skin often misinterpreted as a capillary malformation, in fact a quiescent Schobinger

Definition

Blue rubber bleb nevus syndrome (Bean syndrome) is a rare disorder characterized by venous malformations of the skin and gastrointestinal tract. In 1860, Gascoyen first reported this constellation of features, which was then followed by scattered reports. Bean127 reported two additional cases and reviewed the literature in 1958. He coined the term “blue rubber bleb nevus syndrome” to describe the characteristic skin and gastrointestinal features.

Clinical characteristics

Blue rubber bleb nevus syndrome occurs

Definition

Proteus syndrome was so named by Weidemann, Burgio, and Aidenhoff145 in 1983 to describe a rare sporadic disorder that is characterized by soft tissue and bony hypertrophy of the hands and feet, hemihypertrophy, exostosis, cranial hyperostosis, visceral hamartomas including lipomas, vascular anomalies, and epidermal nevi.

Clinical characteristics

In the initial description of this syndrome, Weidemann, Burgio, and Aidenhoff proposed the following criteria for diagnosis: gigantism of the hands and/or feet, pigmented nevi

Definition

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Rendu-Weber syndrome, is a genetically heterogeneous, autosomal dominant disorder characterized by mucocutaneous and visceral telangiectases and AVMs.

Clinical characteristics

HHT is reported in many ethnic groups. The prevalence varies among populations. Recurrent epistaxis from mucosal telangiectasia is a common presenting feature, often reported within the first two decades of life, and frequently occurs before the appearance of cutaneous telangiectasia.

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    Funding sources: None.

    Conflicts of interest: None identified.

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    Copyright © 2007 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.