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

摘要

Key Clinical Message 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.