Sturge-Weber-Klippel-Trenaunay syndrome: What’s in a name?

European Journal of Dermatology. Volume 13, Number 3, May 2003, Editorial

Author(s) : Rudolf HAPPLE , Department of Dermatology Philipp University of Marburg Deutschhausstraße 9 D-35033 Marburg, Germany .

ARTICLE

Auteur(s) : Rudolf HAPPLE

Department of Dermatology Philipp University of Marburg Deutschhausstraße 9 D-35033 Marburg, Germany

Reprints: R. Happle Fax: (+49) 6421-286-2902 E-mail: happlemailer.uni-marburg.de

In this issue, Vissers et al. present an interesting case of Sturge-Weber syndrome coexisting with Klippel-Trenaunay syndrome [1]. The authors support the concept that these are two manifestations of one single entity, and I fully agree with this unifying view. There still remains, however, the problem how to name this rather complex and variable phenotype.
Vissers et al. feel that an eponymous classification is of little use for complex abnormalities such as the one described in their report. Unfortunately, however, they do not propose any suitable alternative to designate this entity. According to the Table presented in their article, the disorder may be named “a sporadically occurring phenotype, caused by mosaicism, with vascular malformations as presenting symptom, combined with soft issue hyper-/hypotrophy and bone abnormalities”. For obvious reasons, this term is too long-winded to be used by busy practitioners. Moreover, there is clinical evidence suggesting that this multisystem birth defect is not simply a “sporadically occurring phenotype” but may be transmitted as a paradominant trait [2]. Even more importantly, the terms “vascular malformation” and “capillary malformation” are ambiguous because they do not exclude nevus anemicus or cutis marmorata telangiectatica congenita that may occur as vascular features of other complex birth defects.
Remarkably, Vissers et al. avoid the terms “nevus flammeus” or “telangiectatic nevus” throughout their paper. Such names do apparently no longer exist in their classification, but in my view they are very useful and even unavoidable for an appropriate taxonomy of vascular lesions.
However that may be, I strongly recommend that we should apply a name to the phenotype as described by Vissers et al. I propose the designation “Sturge-Weber-Klippel-Trenaunay syndrome”, a term that I have used during the past years in several articles [2, 3] and even smuggled into some textbooks [4, 5]. Other authors have used the same eponyms in a reverse order [6].
Because a corresponding involvement of the trunk is currently named “Cobb syndrome” [7], one might argue that this name should likewise be included but this would make the term too clumsy. On the other hand, the “Parkes Weber syndrome” denoting arteriovenous fistulas of a limb is eponymically included because Frederic Parkes Weber [8] is identical with one of the describers of Sturge-Weber syndrome [9].
Those who think that the name “Sturge-Weber-Klippel-Trenaunay syndrome” is too long-winded may try to invent a better term to designate the impressive phenotype as presented by Vissers et al. [1]. n

References

1. Vissers WHPM, van Steensel MAM, Steijlen PM, Renier W, van de Kerkhof PCM, van der Vleuten CJM. Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme? Eur J Dermatol 2003; 13: 238-41.

2. Happle R. Loss of heterozygosity in human skin. J Am Acad Dermatol 1999; 41: 143-61.

3. Happle R. Mosaicism in human skin: understanding the patterns and mechanisms. Arch Dermatol 1993; 129: 1460-70.

4. Happle R. Neurocutaneous diseases. In: Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, Fitzpatrick TB, eds. Dermatology in general medicine. 5th ed. New York: McGraw-Hill, 1999: 2131-48.

5. Happle R. Principles of genetics, mosaicism and molecular biology. In: Harper J, Oranje A, Prose N, eds. Textbook of pediatric dermatology. Oxford: Blackwell, 2000: 1037-56.

6. Neetens A, Martin JJ, Neetens I, Smets RM. The Klippel-Trenaunay-Sturge-Weber syndrome. Bull Soc Belge Ophtalmol 1987; 224: 123-37.

7. Cobb S. Haemangioma of the spinal cord, associated with skin naevi of the same metamere. Ann Surg 1915; 62: 641-9.

8. Parkes Weber F. Angioma formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatol 1907; 19:231-5.

9. Weber FP. Right-sided hemi-hypertrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain, revealed by radiograms. J Neurol Psychopathol 1922; 37: 301-11.