This article has been peer reviewed and approved by Michael Fisher, MD, Professor of Medicine, Albert Einstein College of Medicine. Review date: April 2009.
Drs. Gober-Wilcox, Gardner, Joste, Clericuzio, and Zlotoff report no conflict of interest. The authors report no discussion of off-label use. Dr. Fisher reports no conflict of interest. The staff of CCME of Albert Einstein College of Medicine and Cutis® have no conflicts of interest with commercial interest related directly or indirectly to this educational activity. Dr. Gober-Wilcox is a resident and Dr. Joste is Professor, both in the Department of Pathology; Dr. Clericuzio is Professor of Pediatrics, Division of Clinical Genetics and Dysmorphology, Department of Pediatrics; and Dr. Zlotoff is Assistant Professor, Department of Dermatology; all from the University of New Mexico Health Sciences Center, Albuquerque. Dr. Gardner is a surgical pathology fellow, Department of Pathology, Stanford University School of Medicine, California.
Julie K. Gober-Wilcox, MD; David L. Gardner, MD; Nancy E. Joste, MD; Carol L. Clericuzio, MD; Barrett Zlotoff, MD
Klippel-Trenaunay syndrome (KTS) is a rare disorder involving a triad of cutaneous capillary malformations (port-wine stain), varicose veins or venous malformations, and bony or soft tissue hyperplasia of an extremity. It is one of many heterogeneous disorders known as overgrowth syndromes that are characterized by either generalized or localized somatic overgrowth. Overgrowth syndromes each have unique clinical, behavioral, and genetic features, but some of these features overlap, causing diagnostic difficulty. Cutaneous manifestations, however, can be key to distinguishing the various syndromes. We present a patient with an unusual variant of KTS consisting of right upper extremity hyperplasia, lymphedema, and cutaneous and visceral lymphangiomas. We review several closely related syndromes and discuss the differential diagnosis of limb hyperplasia.
