Ectodermal manifestations in Menkes disease

Charleen M. Moore, R. Rodney Howell

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)532-540
Number of pages9
JournalClinical Genetics
Issue number6
StatePublished - Dec 1985
Externally publishedYes


  • Menkes
  • X‐linked
  • pili torti

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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