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...

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Autores principales: Kane, Jennifer, Berrebi, Kristen, McLean, Riley, Petkiewicz, Stephanie, Hay, Beverly, Martin, Madelena, Wiss, Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494382/
https://www.ncbi.nlm.nih.gov/pubmed/28680615
http://dx.doi.org/10.1002/ccr3.1011
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author Kane, Jennifer
Berrebi, Kristen
McLean, Riley
Petkiewicz, Stephanie
Hay, Beverly
Martin, Madelena
Wiss, Karen
author_facet Kane, Jennifer
Berrebi, Kristen
McLean, Riley
Petkiewicz, Stephanie
Hay, Beverly
Martin, Madelena
Wiss, Karen
author_sort Kane, Jennifer
collection PubMed
description 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.
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spelling pubmed-54943822017-07-05 Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis Kane, Jennifer Berrebi, Kristen McLean, Riley Petkiewicz, Stephanie Hay, Beverly Martin, Madelena Wiss, Karen Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-06-01 /pmc/articles/PMC5494382/ /pubmed/28680615 http://dx.doi.org/10.1002/ccr3.1011 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Kane, Jennifer
Berrebi, Kristen
McLean, Riley
Petkiewicz, Stephanie
Hay, Beverly
Martin, Madelena
Wiss, Karen
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
title Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
title_full Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
title_fullStr Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
title_full_unstemmed Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
title_short Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
title_sort noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494382/
https://www.ncbi.nlm.nih.gov/pubmed/28680615
http://dx.doi.org/10.1002/ccr3.1011
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