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

Jennifer KaneKristen BerrebiRiley McLeanStephanie PetkiewiczBeverly HayMadelena MartinKaren Wiss
Published in: Clinical case reports (2017)
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 SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.
Keyphrases
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  • case report
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  • patient reported