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Painful, reappearing eruption in a medically complex 4-year-old.

Publication ,  Journal Article
Sooy, M; Randell, RL; Tchapyjnikov, D; Werner, K; Nazareth-Pidgeon, K
Published in: BMJ Case Rep
February 18, 2021

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.

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Published In

BMJ Case Rep

DOI

EISSN

1757-790X

Publication Date

February 18, 2021

Volume

14

Issue

2

Location

England

Related Subject Headings

  • Pain
  • NAV1.7 Voltage-Gated Sodium Channel
  • Male
  • Humans
  • Heart Defects, Congenital
  • Exanthema
  • Erythromelalgia
  • Coloboma
  • Child, Preschool
  • 42 Health sciences
 

Citation

APA
Chicago
ICMJE
MLA
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Sooy, M., Randell, R. L., Tchapyjnikov, D., Werner, K., & Nazareth-Pidgeon, K. (2021). Painful, reappearing eruption in a medically complex 4-year-old. BMJ Case Rep, 14(2). https://doi.org/10.1136/bcr-2020-239310
Sooy, Meredith, Rachel L. Randell, Dmitry Tchapyjnikov, Klaus Werner, and Kristina Nazareth-Pidgeon. “Painful, reappearing eruption in a medically complex 4-year-old.BMJ Case Rep 14, no. 2 (February 18, 2021). https://doi.org/10.1136/bcr-2020-239310.
Sooy M, Randell RL, Tchapyjnikov D, Werner K, Nazareth-Pidgeon K. Painful, reappearing eruption in a medically complex 4-year-old. BMJ Case Rep. 2021 Feb 18;14(2).
Sooy, Meredith, et al. “Painful, reappearing eruption in a medically complex 4-year-old.BMJ Case Rep, vol. 14, no. 2, Feb. 2021. Pubmed, doi:10.1136/bcr-2020-239310.
Sooy M, Randell RL, Tchapyjnikov D, Werner K, Nazareth-Pidgeon K. Painful, reappearing eruption in a medically complex 4-year-old. BMJ Case Rep. 2021 Feb 18;14(2).

Published In

BMJ Case Rep

DOI

EISSN

1757-790X

Publication Date

February 18, 2021

Volume

14

Issue

2

Location

England

Related Subject Headings

  • Pain
  • NAV1.7 Voltage-Gated Sodium Channel
  • Male
  • Humans
  • Heart Defects, Congenital
  • Exanthema
  • Erythromelalgia
  • Coloboma
  • Child, Preschool
  • 42 Health sciences