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.
Based on the clinical picture and investigations results, which is the most likely diagnosis?
How can the diagnosis be confirmed?
CT with PET
None of the above, the diagnosis is clinical
What is the mainstay of management?
Conservative with follow-up
Which of the following complications can occur?
Urinary and gastrointestinal bleeding
All of the above
Answers can be found on page 02.
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Contributors LCW and MS drafted the manuscript; FMM edited the radiological aspects of the case; IB and EB supervised the work; FMR edited the final version of the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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