Department of Dermatology; Department of Pathology; Department of Pediatrics
Dermatology | Pediatrics | Skin and Connective Tissue Diseases
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.
Noonan syndrome with loose anagen hair, trichoptilosis, trichorrhexis nodosa
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© 2017 The Authors.
DOI of Published Version
Clin Case Rep. 2017 Jul; 5(7): 1152–1154. doi: 10.1002/ccr3.1011. Link to article on publisher's site
Clinical case reports
Kane, Jennifer L.; Berrebi, Kristen; McLean, Riley; Petkiewicz, Stephanie; Hay, Beverly N.; Martin, Madelena; and Wiss, Karen, "Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis" (2017). Pediatric Publications and Presentations. 170.
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