Indeed, Charles Darwin wrote of this condition in 1875, when he noted a family in Scinde, in which ten men, in the course of four generations, were furnished, in both jaws taken together, with only four small and weak incisor teeth and with eight posterior molars. The men thus affected have very little hair on their body and become bald early in life. They also suffer much during hot weather from excessive dryness of the skin. Anhydrotic ectodermal dysplasia in a 13-month old boy. There is a lack of eyebrows, eyelids, and teeth.
Hair is sparse.
The gene for AED was found by translocations to be located at Xq12-q13.1, and the presence of a CpG island near the breakpoint suggested that there was a promoter for a gene in this region. Using overlapping genomic clones from this area, a sequence was found that suggested an open reading frame of an exon. Individuals with AED were found to have either deletions, frameshifts, or point mutations in this gene. In situ hybridization of a probe for the EDA gene in human adult scalp. Seen by dark-field microscopy, the radioactivity reduces the silver and causes the silver particles to appear white.