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

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clin Case Rep
Hauptverfasser: Kane, Jennifer, Berrebi, Kristen, McLean, Riley, Petkiewicz, Stephanie, Hay, Beverly, Martin, Madelena, Wiss, Karen
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
Schlagworte:
Case Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5494382/
https://ncbi.nlm.nih.gov/pubmed/28680615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1011
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge