Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis

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  • Jennifer Kane
    Department of Dermatology University of Massachusetts Medical School 281 Lincoln Street Worcester 01605 Massachusetts
  • Kristen Berrebi
    Department of Dermatology University of Massachusetts Medical School 281 Lincoln Street Worcester 01605 Massachusetts
  • Riley McLean
    Department of Dermatology University of Massachusetts Medical School 281 Lincoln Street Worcester 01605 Massachusetts
  • Stephanie Petkiewicz
    Department of Dermatology University of Massachusetts Medical School 281 Lincoln Street Worcester 01605 Massachusetts
  • Beverly Hay
    Department of Pediatrics University of Massachusetts Medical School 55 Lake Avenue North Worcester 01605 Massachusetts
  • Madelena Martin
    Department of Pediatrics University of Massachusetts Medical School 55 Lake Avenue North Worcester 01605 Massachusetts
  • Karen Wiss
    Department of Dermatology University of Massachusetts Medical School 281 Lincoln Street Worcester 01605 Massachusetts

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<jats:title>Key Clinical Message</jats:title><jats:p>We report a case of Noonan syndrome with loose anagen hair (<jats:styled-content style="fixed-case">NS</jats:styled-content>/<jats:styled-content style="fixed-case">LAH</jats:styled-content>), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The <jats:italic><jats:styled-content style="fixed-case">SHOC</jats:styled-content>2</jats:italic> mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.</jats:p>

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