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

  • Kane J
  • Berrebi K
  • McLean R
  • et al.
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Abstract

We report a case of Noonan syndrome with loose anagen hair ( NS / LAH ), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC 2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.

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Kane, J., Berrebi, K., McLean, R., Petkiewicz, S., Hay, B., Martin, M., & Wiss, K. (2017). Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis. Clinical Case Reports, 5(7), 1152–1154. https://doi.org/10.1002/ccr3.1011

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