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  • Title: Macromelia masquerading as an acromegaloid syndrome in an adult with Klippel-Trénaunay syndrome.
    Author: Lowman E, Mooradian AD.
    Journal: Endocr Pract; 2008; 14(1):109-11. PubMed ID: 18238750.
    Abstract:
    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. CONCLUSION: The recognition that the tissue hypertrophy in Klippel-Trénaunay syndrome can occur symmetrically will help avoid unnecessary and extensive workup for acromegaly.
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