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Letter |
Children's Hospital Boston Harvard Medical School Boston, MA
WEB—This is a Web exclusive article.
Unfortunately, Elsayes et al. [1] neither mentioned nor adhered to the widely known classification of vascular anomalies that was adopted by the International Society for the Study of Vascular Anomalies (ISSVA). Mulliken and Glowacki [2] published this landmark article in 1982 classifying vascular anomalies according to natural history and endothelial cell features. The article is one of the most frequently cited in this field. Consequently, inaccurate terminology and diagnoses can be found in many places throughout the Elsayes et al. article. It is imperative to refine the terminology to provide more accurate evaluation, prognosis, and counseling [3].
"Hemangiomatosis syndromes" is one of the unusual terms Elsayes et al. [1] used. Hemangiomas, as defined in the article, are benign tumors of infancy. These common tumors are not typically associated with the syndromes reviewed in the article. "Hemangiomatosis" refers strictly to the presence of multiple hemangiomas, such as in "liver hemangiomatosis" seen in the early infantile period. The more appropriate nosology for these syndromes is "overgrowth syndromes associated with vascular anomalies" or simply "syndromes with vascular anomalies." The authors did not mention many other congenital and inheritable syndromes that are associated with vascular anomalies, such as capillary malformation–arteriovenous malformation, TIE2 mutation, Bannayan-Riley-Ruvalcaba syndrome, Maffucci's syndrome, and others.
Kasabach-Merritt syndrome is another inaccurate term used by Elsayes et al. [1]. The authors called it a syndrome and stated that diffuse neonatal hemangiomatosis, angiosarcoma, and arteriovenous mal formations are among the causative factors for this phenomenon. Kasabach-Merritt phenomenon refers to a specific severe consumptive thrombocytopenia resulting from either tufted angioma or kaposiform hemangioendothelioma. This phenomenon is typically absent in classic infantile hemangioma or any overgrowth syndrome [4].
In their article, Elsayes et al. [1] use Figure 1 to show the imaging signs of blue rubber bleb nevus syndrome in a 32-year-old woman. However, the lesion shown in the images has a circumferential thickening of the rectal region without any evidence of phleboliths or discrete lesions. This is fairly atypical for this disorder. On the other hand, such findings can be seen in rare forms of isolated venous malformation and, more commonly, in pelvic extension of lymphatic malformation. The venous malformations of blue rubber bleb nevus syndrome are multiple discrete lesions. These findings, in my experience with a large number of these patients and based on the published literature, are typical and predictable in blue rubber bleb nevus syndrome patients [5].
In their article, Elsayes et al. [1] present Figure 7 of a 19-year-old woman with Klippel-Trénaunay syndrome. The figure shows a symmetrically increased circumference of the right thigh. The overgrowth in this image is caused by enlargement of the muscles. There are no signs of lymphatic or venous anomalies. However, in Klippel-Trénaunay syndrome, the overgrowth is predominantly fatty and mainly located in the subcutaneous layer, with relative sparing of the musculoskeletal compartment. In addition, lymphatic and ectatic venous channels are typically present.
Figure 9 is another example of inaccurate use of terminology in the Elsayes et al. [1] article. The authors correctly defined Klippel-Trénaunay syndrome earlier as a congenital disorder with port-wine stain, abnormal venous structures, and osseous and soft-tissue hypertrophy. Then in Figure 9B, a large posterior mediastinal mass is described as a "pathologically proven hemangioma." Klippel-Trénaunay syndrome is not known to be associated with increased risk of hemangiomas. Similar inaccuracies are found in Figure 11.
In Figure 10, Elsayes et al. [1] present a 29-year-old woman with Klippel-Trénaunay syndrome and extensive venous malformation with both superficial and deep venous components. Again, the images are those of a predominantly intramuscular venous malformation. There are no signs of lymphatic or fatty overgrowth, classic of Klippel-Trénaunay syndrome on the images shown.
Finally, I completely agree with the notion of Elsayes et al. [1] that, in this field, "mis-diagnosis is not rare." I believe that many of the cases presented in this article are good examples of this.
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  K. M. Elsayes, J. R. Dillman, C. O. Menias, J. F. Platt, and J. P. Heiken Reply Am. J. Roentgenol., October 1, 2008; 191(4): W193 - W194. [Full Text] [PDF]
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