Macromelia masquerading as an acromegaloid syndrome in an adult with Klippel-Trénaunay syndrome.
OBJECTIVE
To describe a case of Klippel-Trénaunay syndrome in an adult patient with symmetric macromelia suggestive of an acromegaloid syndrome.


METHODS
We report clinical and laboratory data that were extracted from the medical records of the study patient. We also survey the relevant reports identified through a MEDLINE search of the English-language literature published between January 1, 1996, and June 2, 2007, using the phrase, Klippel-Trénaunay syndrome.


RESULTS
A 28-year-old man was admitted to the hospital for weeping lymphedema of the left lower extremity. He had pronounced symmetric hypertrophy of all distal extremities, port-wine stains on his right neck, and varicosities on his left groin. The patient's insulinlike growth factor 1 concentration was 92 ng/mL (reference range, 117-329 ng/mL), which did not support the diagnosis of acromegaly. Klippel-Trénaunay syndrome is a rare congenital condition that belongs to a family of disorders characterized by tissue overgrowth. Classically, the syndrome presents as a triad of vascular malformations, cutaneous hemangiomas, and bone or soft-tissue hypertrophy usually affecting one extremity. The tissue hypertrophy in this syndrome is typically localized and asymmetric.


CONCLUSIONS
The recognition that the tissue hypertrophy in Klippel-Trénaunay syndrome can occur symmetrically will help avoid unnecessary and extensive workup for acromegaly.
Lowman
Erik
E
Department of Medicine, University of Florida College, Jacksonville, Florida 32209-6511, USA.
Mooradian
Arshag D
AD
D000172:Acromegaly / Q000150:complications / Q000175:diagnosis*; D000328:Adult; D003937:Diagnosis, Differential; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000175:diagnosis*; D008209:Lymphedema / Q000150:complications / Q000175:diagnosis*; D008297:Male; D019339:Port-Wine Stain / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome