Vascular birthmarks of infancy: resolving nosologic confusion |
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Authors: | Hand Jennifer L Frieden Ilona J |
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Affiliation: | Department of Dermatology, Mayo Clinic, Rochester, Minnesota 55905, USA. hand.jennifer@mayo.edu |
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Abstract: | The terminology describing congenital vascular birthmarks has been a source of confusion in the medical literature. Mulliken and Glowacki [1982: Plas. Recons. Surg. 69:412-422] published a biologic classification system which has become the most widely accepted framework for classifying vascular birthmarks and is accepted as the official classification schema by the International Society for the Study of Vascular Anomalies (ISSVA). In this study, we evaluate the current nosology of vascular birthmarks used in standard medical genetics reference texts compared with the accepted Mulliken ISSVA framework. In five sources examined, a variety of terms were used to describe congenital vascular anomalies. The degree of agreement with accepted ISSVA classification varied both within and among texts, with agreement as low as 22% and as high as 75%. In all texts, hemangioma was the most commonly used term, appearing 79 times. Use of the term "hemangioma" had the lowest rate of agreement with the ISSVA classification criteria, with agreement in 23% of citations. The terms "vascular malformation" and "port-wine stain" were used less frequently, but with a much higher degree of agreement with the ISSVA classification: 82% and 66%, respectively. These results establish that nosologic confusion is widespread even in standard genetic reference texts. In particular, the term "hemangioma" is used imprecisely. The ISSVA classification system provides an extremely useful framework for geneticists to classify vascular birthmarks in their evaluation of infants and children with vascular anomalies in order to provide more accurate evaluation, prognosis, and genetic counseling. |
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