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Unilateral leg swelling in a newborn


A female neonate was born with asymmetric lower limbs, the right leg appearing enlarged, with thickened, reddish-purple skin and ectasic superficial reticulum (figure 1A,B). Limb pulses were present and symmetrical. The girl’s family history and prenatal scans were unremarkable. Laboratory findings were within the normal range, except for a mild thrombocytopenia (90 000/μL), which spontaneously resolved during the next few days. A leg X-ray and the Doppler analysis ruled out the presence of calcifications and venous varices, respectively. Ultrasound showed significant skin thickening, with marked dermal hypertrophy and hyperechogenicity. Magnetic resonance showed circumferential thickening of the derma, with mild hypertrophy of some perforating vessels (figure 2). A biopsy of the right thigh showed capillary malformations on histology.

Figure 1 (A, B) Hypertrophy of the right lower limb, with large capillary malformation extending to the gluteus and the external genitalia.

Figure 2 Axial THRIVE magnetic resonance scan of the thighs’ proximal third, showing circumferential dermal thickening and inhomogeneity of the right leg’s subcutaneous tissue.
  1. Based on the clinical picture and investigations results, which is the most likely diagnosis?

    1. Beckwith-Wiedemann

    2. CLOVES syndrome

    3. Klippel-Trenaunay syndrome

    4. Kaposiform hemangioendothelioma

  2. How can the diagnosis be confirmed?

    1. CT with PET

    2. Lymphoscintigraphy

    3. Genetic testing

    4. None of the above, the diagnosis is clinical

  3. What is the mainstay of management?

    1. Conservative with follow-up

    2. Pharmacotherapy

    3. Sclerotherapy

    4. Surgery

  4. Which of the following complications can occur?

    1. Scoliosis

    2. Glaucoma

    3. Urinary and gastrointestinal bleeding

    4. All of the above

Answers can be found on page 02.

  • dermatology
  • genetics
  • growth
  • neonatology
  • syndrome

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