Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs.

Background: The association of hair shaft abnormalities with the phenotypic findings of a new, distinct form of an autosomal recessive syndrome of ectodermal dysplasia was present in 27 patients from seven families.

Objective: Our purpose was to present the cutaneous findings that characterize this syndrome with particular attention given to the hair shaft abnormalities.

Methods: Multiple field visits were used to gather data on phenotypic findings and prospectively evaluate their prevalence.