Vascular birthmarks of infancy

Resolving nosologic confusion

Jennifer L. Hand, Ilona J. Frieden

Research output: Contribution to journalArticle

94 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)257-264
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume108
Issue number4
DOIs
StatePublished - Apr 1 2002

Fingerprint

Blood Vessels
Hemangioma
Port-Wine Stain
Vascular Malformations
Genetic Counseling
Medical Genetics
Terminology

Keywords

  • Birthmark
  • Cutis marmorata
  • Hemangioma
  • Nevus flammeus
  • Port-wine stain
  • Vascular malformation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Vascular birthmarks of infancy : Resolving nosologic confusion. / Hand, Jennifer L.; Frieden, Ilona J.

In: American Journal of Medical Genetics, Vol. 108, No. 4, 01.04.2002, p. 257-264.

Research output: Contribution to journalArticle

Hand, Jennifer L. ; Frieden, Ilona J. / Vascular birthmarks of infancy : Resolving nosologic confusion. In: American Journal of Medical Genetics. 2002 ; Vol. 108, No. 4. pp. 257-264.
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