Death due to complications of anhidrotic ectodermal dysplasia

Emily Ogden, Cynthia Schandl, Lee Marie Tormos

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Ectodermal dysplasia comprises a group of disorders affecting ectodermal tissues. Severity depends on the genetic aberration; hyperpyrexia secondary to absence of sweat glands is a common complication. Treatment is supportive. This case report describes a 1-month, 27-day-old male infant with a diagnosis of X-linked recessive anhidrotic ectodermal dysplasia. On the day of his death, his mother swaddled him in a blanket and placed him on the couch at 5:30 am. When she picked him up at 8:00 am, he was unresponsive. At the emergency department, his rectal temperature was 40°C. Postmortem blood culture was positive for group B streptococcus, a possible etiology for fever. It is vital to teach parents that close monitoring of children with ectodermal dysplasia is necessary, as an increase in body temperature can become life threatening.

Original languageEnglish (US)
Pages (from-to)1672-1674
Number of pages3
JournalJournal of Forensic Sciences
Volume59
Issue number6
DOIs
StatePublished - Nov 1 2014

Keywords

  • Anhidrotic ectodermal dysplasia
  • EDA gene
  • Forensic science
  • Genetic disease
  • Late-onset group B streptococcus
  • Scene recreation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Genetics

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