title: Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia.
abstract: Hypohidrotic/ anhidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (decreased tooth development). Sweating is either absent or greatly deficient leading to an increased risk for hyperthermia. This is a relatively common genetic condition; it is estimated that 1 in approximately 5000–10 000 newborns has HED (Wright et al., 2009). Here, we report an infant with HED who presented with a heat stroke-like condition in the extreme winter months of Michigan.
authors.affiliation: Children's Hospital of Michigan Department of Radiology, Detroit Medical Center, Detroit, Michigan, USA.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Prasun
authors.forename: Swati A
authors.initials: SA
authors.lastname: Karmarkar
authors.forename: Ajay
authors.initials: A
authors.lastname: Agarwal
authors.forename: David
authors.initials: D
authors.lastname: W Stockton
mesh_terms: D000848:Anodontia / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D018883:Heat Stroke; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics; D007223:Infant; D008297:Male; D013546:Sweating / Q000235:genetics; D013576:Syndactyly / Q000235:genetics