title: Death due to complications of anhidrotic ectodermal dysplasia.
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.
authors: Pathology and Laboratory Medicine, Medical University of South Carolina, 171 Ashley Ave, Charleston, SC, 29425.
authors: Emily
authors: E
authors: Ogden
authors: Cynthia
authors: C
authors: Schandl
authors: Lee Marie
authors: LM
authors: Tormos
mesh_terms: D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000150:complications*; D017809:Fatal Outcome; D005334:Fever / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013290:Streptococcal Infections / Q000175:diagnosis; D013292:Streptococcus agalactiae / Q000302:isolation & purification
keywords: EDA gene; anhidrotic ectodermal dysplasia; forensic science; genetic disease; late-onset group B streptococcus; scene recreation