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.

Results: Corkscrew hair, an exaggeration of pili torti, represents the most striking feature of this syndrome. Prominent cutaneous findings include scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratodermia, cutaneous syndactyly, onychodysplasia, and conjunctival neovascularization. Other features include typical facies, anteverted pinnae, malar hypoplasia, cleft Up and palate, and dental abnormalities.

Conclusion: A syndrome characterized by pili torti and corkscrewjiairs, previously reported in only one patient, can be recognized.