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Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevel...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Dermatologia
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193204/ https://www.ncbi.nlm.nih.gov/pubmed/28099615 http://dx.doi.org/10.1590/abd1806-4841.20164922 |
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author | de Gouveia, Miguel Pinto Coutinho, Inês Teixeira, Vera d'Oliveira, Renata Venâncio, Margarida Moreno, Ana |
author_facet | de Gouveia, Miguel Pinto Coutinho, Inês Teixeira, Vera d'Oliveira, Renata Venâncio, Margarida Moreno, Ana |
author_sort | de Gouveia, Miguel Pinto |
collection | PubMed |
description | Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype. |
format | Online Article Text |
id | pubmed-5193204 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Sociedade Brasileira de Dermatologia |
record_format | MEDLINE/PubMed |
spelling | pubmed-51932042016-12-29 Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism de Gouveia, Miguel Pinto Coutinho, Inês Teixeira, Vera d'Oliveira, Renata Venâncio, Margarida Moreno, Ana An Bras Dermatol Syndrome in Question Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype. Sociedade Brasileira de Dermatologia 2016 /pmc/articles/PMC5193204/ /pubmed/28099615 http://dx.doi.org/10.1590/abd1806-4841.20164922 Text en http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Syndrome in Question de Gouveia, Miguel Pinto Coutinho, Inês Teixeira, Vera d'Oliveira, Renata Venâncio, Margarida Moreno, Ana Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism |
title | Do you know this syndrome? Dyspigmentation along the Blaschko lines
caused by trisomy 7 mosaicism |
title_full | Do you know this syndrome? Dyspigmentation along the Blaschko lines
caused by trisomy 7 mosaicism |
title_fullStr | Do you know this syndrome? Dyspigmentation along the Blaschko lines
caused by trisomy 7 mosaicism |
title_full_unstemmed | Do you know this syndrome? Dyspigmentation along the Blaschko lines
caused by trisomy 7 mosaicism |
title_short | Do you know this syndrome? Dyspigmentation along the Blaschko lines
caused by trisomy 7 mosaicism |
title_sort | do you know this syndrome? dyspigmentation along the blaschko lines
caused by trisomy 7 mosaicism |
topic | Syndrome in Question |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193204/ https://www.ncbi.nlm.nih.gov/pubmed/28099615 http://dx.doi.org/10.1590/abd1806-4841.20164922 |
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