Ectodermal manifestations in Menkes disease

Charleen M. Moore, R. Rodney Howell

Research output: Contribution to journalArticlepeer-review

29 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


  • Menkes
  • X‐linked
  • pili torti

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Ectodermal manifestations in Menkes disease'. Together they form a unique fingerprint.

Cite this