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Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings
Trichothiodystrophy (TTD) is characterized by the common feature of sulfur-deficient brittle hair associated with a constellation of neuroectodermal symptoms. There is a wide phenotypic variation in the severity; ranging from isolated hair defect to multiple neuroectodermal symptoms such as photosen...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029003/ https://www.ncbi.nlm.nih.gov/pubmed/30034195 http://dx.doi.org/10.4103/ijt.ijt_63_17 |
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author | Kaur, Jasleen Bhalla, Mala Thami, Gurvinder Pal |
author_facet | Kaur, Jasleen Bhalla, Mala Thami, Gurvinder Pal |
author_sort | Kaur, Jasleen |
collection | PubMed |
description | Trichothiodystrophy (TTD) is characterized by the common feature of sulfur-deficient brittle hair associated with a constellation of neuroectodermal symptoms. There is a wide phenotypic variation in the severity; ranging from isolated hair defect to multiple neuroectodermal symptoms such as photosensitivity, ichthyosis, intellectual impairment, decreased fertility, and short stature. This case report describes TTD in two sisters with only hair fragility and no other associated feature. This case highlights the variable clinical presentation of TTD and the need for regular follow-up in such patients for an early detection of any neurological, physical, and sexual impairment. |
format | Online Article Text |
id | pubmed-6029003 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-60290032018-07-20 Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings Kaur, Jasleen Bhalla, Mala Thami, Gurvinder Pal Int J Trichology Case Report Trichothiodystrophy (TTD) is characterized by the common feature of sulfur-deficient brittle hair associated with a constellation of neuroectodermal symptoms. There is a wide phenotypic variation in the severity; ranging from isolated hair defect to multiple neuroectodermal symptoms such as photosensitivity, ichthyosis, intellectual impairment, decreased fertility, and short stature. This case report describes TTD in two sisters with only hair fragility and no other associated feature. This case highlights the variable clinical presentation of TTD and the need for regular follow-up in such patients for an early detection of any neurological, physical, and sexual impairment. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC6029003/ /pubmed/30034195 http://dx.doi.org/10.4103/ijt.ijt_63_17 Text en Copyright: © 2018 International Journal of Trichology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Kaur, Jasleen Bhalla, Mala Thami, Gurvinder Pal Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings |
title | Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings |
title_full | Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings |
title_fullStr | Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings |
title_full_unstemmed | Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings |
title_short | Trichothiodystrophy without Associated Neuroectodermal Features in Two Siblings |
title_sort | trichothiodystrophy without associated neuroectodermal features in two siblings |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029003/ https://www.ncbi.nlm.nih.gov/pubmed/30034195 http://dx.doi.org/10.4103/ijt.ijt_63_17 |
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