Death Due to Complications of Anhidrotic Ectodermal Dysplasia |
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Authors: | Emily Ogden M.D. Cynthia Schandl M.D. Ph.D. Lee Marie Tormos M.D. |
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Affiliation: | Pathology and Laboratory Medicine, Medical University of South Carolina, , Charleston, SC, 29425 |
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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. |
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Keywords: | forensic science genetic disease anhidrotic ectodermal dysplasia scene recreation late‐onset group B streptococcus EDA gene |
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