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

Jennifer Kane; Kristen Berrebi; Riley McLean; Stephanie Petkiewicz; Beverly Hay; Madelena Martin; Karen Wiss

doi:10.1002/ccr3.1011

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

Clin Case Rep. 2017 Jun 1;5(7):1152-1154. doi: 10.1002/ccr3.1011. eCollection 2017 Jul.

Authors

Jennifer Kane¹, Kristen Berrebi¹, Riley McLean¹, Stephanie Petkiewicz^{1

2}, Beverly Hay³, Madelena Martin³, Karen Wiss^{1

3}

Affiliations

¹ Department of Dermatology University of Massachusetts Medical School 281 Lincoln Street Worcester 01605 Massachusetts.
² Department of Pathology University of Massachusetts Medical School 55 Lake Avenue North Worcester 01655 Massachusetts.
³ Department of Pediatrics University of Massachusetts Medical School 55 Lake Avenue North Worcester 01605 Massachusetts.

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 SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.

Keywords: Noonan syndrome with loose anagen hair; trichoptilosis; trichorrhexis nodosa.

Publication types

Case Reports