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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...

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Detalles Bibliográficos
Autores principales: de Gouveia, Miguel Pinto, Coutinho, Inês, Teixeira, Vera, d'Oliveira, Renata, Venâncio, Margarida, Moreno, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2016
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.
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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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