Hypohidrotic Ectodermal Dysplasia and Sudden Infant Death

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene

“…A lack of sweat glands can lead to recurrent severe overheating. Thus, children with HED are at substantial risk of sudden death in infancy due to fatal hyperpyrexia [2]. …”

Anhydrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). A case report

“…As a consequence of the reduced number of sweat glands, body temperature cannot be regulated appropriately, and can cause episodes of hyperthermia that may potentially lead to cerebral damage. Death due to hyperthermia, is possible, but uncommon 9 .…”

Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene

“…Four fragments were produced by EclXI digestion: >700, 600, 90 and 20 kb; whereas the largest and the smallest fragments were retained, the 600 and 90 kb fragments were missing in our patient on fatal XLHED is sparse. A few reports have linked XLHED to sudden infant death [1,13,15]. Recurrent episodes of high fever due to lack of eccrine sweat glands are a typical feature of XLHED and it has been suggested that hyperthermia may be fatal in infancy [14].…”

“…Recurrent episodes of high fever due to lack of eccrine sweat glands are a typical feature of XLHED and it has been suggested that hyperthermia may be fatal in infancy [14]. Salisbury and Stothers [13] showed that a mild increase in environmental temperature (from 28°C to 32°C) almost doubled the oxygen consumption in a child with XLHED while total water loss by perspiration remained virtually unchanged. Increased oxygen consumption in return increased heat production and thus aggravated the hyperthermic state.…”