Open AccessNoonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
Author(s) -
Kane Jennifer,
Berrebi Kristen,
McLean Riley,
Petkiewicz Stephanie,
Hay Beverly,
Martin Madelena,
Wiss Karen
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1011
Subject(s) - noonan syndrome , medicine , dermatology , hair disease , pathology , anatomy
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 SHOC 2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.