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Klippel-Trenaunay syndrome
  1. B R Pawel1,
  2. K Spencer2,
  3. J Dormans3
  1. 1Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
  2. 2Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia
  3. 3Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia and The University of Pennsylvania School of Medicine
  1. Correspondence to:
    Dr B R Pawel
    Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia and The University of Pennsylvania School of Medicine, 324 S. 34th St, Philadelphia, PA 19104, USA; pawelbemail.chop.edu

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A 28 year old woman with a history of Klippel-Trenaunay syndrome (KTS) presented to the hospital for an elective amputation of the right lower extremity. KTS is a congenital vascular malformative syndrome involving capillary, lymphatic, and venous structures and is associated with limb (usually asymmetric lower extremity) involvement. The patient had a history of extensive lymphatic and vascular malformations involving both lower extremities since birth, with asymmetric hypertrophy of the right leg, thigh, and buttock, and an associated flexion contracture of the right knee. Since infancy, she had undergone multiple surgical excisions of skin and soft tissues of both legs and perineum, as well as splenectomy, urinary bladder reconstruction, and partial colectomy to ameliorate visceral manifestations of the syndrome. The non-functional right lower extremity was amputated, as it was a source of intractable and severe pain. External examination showed diffuse hypertrophy, with fluctuant, discoloured cutaneous blebs, nearly confluently distributed over the knee and thigh (fig 1A). Cross-section (fig 1B) showed a diffuse proliferation of ectatic vascular spaces throughout the soft tissues, some of which were cavernous and filled with blood and phleboliths. Microscopic examination (fig 1C) revealed innumerable lymphatic and venous malformations within the soft tissues. Four years later, the patient continues to suffer from chronic pain with visceral abdominal and pelvic involvement. As this case shows, clinical management of this congenital vascular malformation continues to be a difficult challenge, which does not necessarily become easier as patients grow older.

Figure 1

 (A) Amputation specimen, right lower extremity. (B) Cross-section of leg. (C) Microscopic appearance of dilated vascular spaces (trichrome elastic stain, 40×).

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  • Competing interests: none declared

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