Faculty Bibliography

Vascular anomalies represent a spectrum of disorders from a simple "birthmark" to life- threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced by patients with these anomalies. Accurate diagnosis is crucial for appropriate evaluation and management, often requiring multidisciplinary specialists. Classification schemes provide a consistent terminology and serve as a guide for pathologists, clinicians, and researchers. One of the goals of the International Society for the Study of Vascular Anomalies (ISSVA) is to achieve a uniform classification. The last classification (1997) stratified vascular lesions into vascular malformations and proliferative vascular lesions (tumors). However, additional disease entities have since been identified that are complex and less easily classified by generic headings, such as capillary malformation, venous malformation, lymphatic malformation, etc. We hereby present the updated official ISSVA classification of vascular anomalies. The general biological scheme of the classification is retained. The section on tumors has been expanded and lists the main recognized vascular tumors, classified as benign, locally aggressive or borderline, and malignant. A list of well-defined diseases is included under each generic heading in the "Simple Vascular Malformations" section. A short definition is added for eponyms. Two new sections were created: one dealing with the malformations of individually named vessels (previously referred to as "truncular" malformations); the second groups lesions of uncertain or debated nature (tumor versus malformation). The known genetic defects underlying vascular anomalies are included in an appendix. This classification is meant to be a framework, acknowledging that it will require modification as new scientific information becomes available.

BACKGROUND: Scalp infantile hemangiomas (IHs) are usually focal lesions that can be both disfiguring and may lead to complications such as ulceration and bleeding. The clinical features of scalp IHs have not been previously studied. This study aims to identify the clinical characteristics associated with scalp IH, the indications for surgical intervention, and results of surgical treatment. METHODS: We performed a retrospective chart review of patients with scalp IH presenting to a tertiary care referral center over the past 7 years. Patients' demographics, clinical features, location, and treatment course were noted. RESULTS: One hundred fifty-one of 1916 total IH patients presented with a diagnosis of scalp IH (8%). The distribution of the scalp lesions was the following: 31.8% frontal, 46.7% parietal, 7.9% occipital, and 9.9% temporal. Fifty-eight percent were solitary and 42% were multifocal lesions. The size range of scalp IH is 1 x 1 cm to 8 x 6 cm. Two percent of patients with scalp IH presented with other facial IH. Primary indications for surgery were secondary to complications such as ulceration (23.2%) and alopecia (51.7%). Surgery included elliptical excision with primary closure (85.7%) or with rotational flap closure (14.3%). The average age of surgery was 3 years (1-8 years). Most patients had a good aesthetic outcome with satisfactory hair growth. CONCLUSION: Scalp IHs are morbid tumors which often cause alopecia and/or ulceration. In our experience, many scalp IHs eventually require surgical intervention. We find that early surgical excision is beneficial, as the tissues are easily manipulated secondary to scalp/soft tissue laxity and scarring is more favorable.

Overgrowth syndromes with vascular anomalies encompass entities with a vascular anomaly as the predominant feature vs those syndromes with predominant somatic overgrowth and a vascular anomaly as a more minor component. The focus of this article is to categorize these syndromes phenotypically, including updated clinical criteria, radiologic features, evaluation, management issues, pathophysiology, and genetic information. A literature review was conducted in PubMed using key words "overgrowth syndromes and vascular anomalies" as well as specific literature reviews for each entity and supportive genetic information (e.g., somatic mosaicism). Additional searches in OMIM and Gene Reviews were conducted for each syndrome. Disease entities were categorized by predominant clinical features, known genetic information, and putative affected signaling pathway. Overgrowth syndromes with vascular anomalies are a heterogeneous group of disorders, often with variable clinical expression, due to germline or somatic mutations. Overgrowth can be focal (e.g., macrocephaly) or generalized, often asymmetrically (and/or mosaically) distributed. All germ layers may be affected, and the abnormalities may be progressive. Patients with overgrowth syndromes may be at an increased risk for malignancies. Practitioners should be attentive to patients having syndromes with overgrowth and vascular defects. These patients require proactive evaluation, referral to appropriate specialists, and in some cases, early monitoring for potential malignancies. Progress in identifying vascular anomaly-related overgrowth syndromes and their genetic etiology has been robust in the past decade and is contributing to genetically based prenatal diagnosis and new therapies targeting the putative causative genetic mutations.