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Case report
Painful, reappearing eruption in a medically complex 4-year-old
  1. Meredith Sooy1,
  2. Rachel L Randell2,
  3. Dmitry Tchapyjnikov3,
  4. Klaus Werner3 and
  5. Kristina Nazareth-Pidgeon4
  1. 1Department of Pediatrics, Duke University, Durham, North Carolina, USA
  2. 2Division of Pediatric Rheumatology, Department of Pediatrics, Duke University, Durham, North Carolina, USA
  3. 3Division of Pediatric Neurology, Department of Pediatrics, Duke University, Durham, North Carolina, USA
  4. 4Pediatric Hospitalist Medicine, Department of Pediatrics, Duke University, Durham, North Carolina, USA
  1. Correspondence to Dr Meredith Sooy; meredith.sooy{at}duke.edu

Abstract

A 4-year-old boy with atypical, complete DiGeorge and CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities) syndromes presented with frequent episodes of a painful, markedly erythematous eruption associated with swelling. Evaluation revealed non-specific findings on skin biopsy at the time of eruption and no pathogenic mutation in the SCN9A gene. The patient was diagnosed with secondary erythromelalgia based on clinical presentation. Erythromelalgia is a rare disorder characterised by recurrent episodes of pain and erythema typically affecting the distal extremities. This case represents the first case of erythromelalgia in the setting of DiGeorge and CHARGE syndromes.

  • paediatrics
  • congenital disorders
  • pain (neurology)
  • peripheral nerve disease
  • dermatology

https://doi.org/10.1136/bcr-2020-239310

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    Footnotes

    • Contributors MS conceptualised the case, provided investigation into case details and topic research, and contributed to writing original manuscript draft. RLR was involved in conceptualization of case, writing of original manuscript draft, and critically reviewed and revised the manuscript. KW provided supervisions of case preparation and critically reviewed and revised the manuscript. DT provided supervisions of case preparation and critically reviewed and revised the manuscript. KN conceptualised the case, provided supervision of case preparation, and critically reviewed and revised the manuscript.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

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