rss
BMJ Case Reports 2018; doi:10.1136/bcr-2017-222269
  • Rare disease
  • CASE REPORT

Cutis marmorata telangiectatica congenita and major lower limb asymmetry

  1. Dolores Pereira
  1. Neonatal Intensive Care Unit, Maternidade Bissaya Barreto, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal
  1. Correspondence to Dr Joana Amaral, joanacbamaral{at}gmail.com
  • Accepted 27 November 2017
  • Published 12 January 2018

Summary

A 39-week-old male newborn presented at birth with atrophic erythematous and purpuric skin lesions, in a typical right-sided segmental distribution. Lesions were persistent and unaffected by rewarming in the postpartum period. Postnatal echocardiogram showed a predominance of the right cavities and an upper atrial septal defect. Cerebral and abdominal ultrasound were normal along with ophthalmological examination. On follow-up, lower limbs asymmetry was noted. The right lower limb was shorter in length and had a smaller diameter. At 6 months, the right lower limb was 1.5 cm shorter than the left, most likely related to nutritive vessels malformations. The discrepancy was even more pronounced at the age of 9 months. This leg-length asymmetry can lead to severe functional limitations in the future.

Footnotes

  • Contributors JA and SP were responsible for the bibliographic research, drafted the initial manuscript and approved the final manuscript to be submitted. GM and DP reviewed and revised the manuscript and approved the final manuscript to be submitted. All authors approved the final manuscript to be submitted and agreed to be accountable for all aspects of the work.

  • Competing interests None declared.

  • Patient consent Guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article