Ectodermal manifestations in Menkes disease.

Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.