Article Text
Abstract
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.
Questions
Based on the clinical picture and investigations results, which is the most likely diagnosis?
Beckwith-Wiedemann
CLOVES syndrome
Klippel-Trenaunay syndrome
Kaposiform hemangioendothelioma
How can the diagnosis be confirmed?
CT with PET
Lymphoscintigraphy
Genetic testing
None of the above, the diagnosis is clinical
What is the mainstay of management?
Conservative with follow-up
Pharmacotherapy
Sclerotherapy
Surgery
Which of the following complications can occur?
Scoliosis
Glaucoma
Urinary and gastrointestinal bleeding
All of the above
Questions Answers can be found on page 02.
- dermatology
- genetics
- growth
- neonatology
- syndrome