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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Sooy, M; Randell, RL; Tchapyjnikov, D; Werner, K; Nazareth-Pidgeon, K

Published Date

  • February 18, 2021

Published In

Volume / Issue

  • 14 / 2

PubMed ID

  • 33602765

Pubmed Central ID

  • PMC7896574

Electronic International Standard Serial Number (EISSN)

  • 1757-790X

Digital Object Identifier (DOI)

  • 10.1136/bcr-2020-239310


  • eng

Conference Location

  • England