Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
Abstract 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 n...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Dermatologia
2016-12-01
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| Series: | Anais Brasileiros de Dermatologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/pdf/abd/v91n6/0365-0596-abd-91-06-0837.pdf |
| _version_ | 1818743516461793280 |
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| author | Miguel Pinto de Gouveia Inês Coutinho Vera Teixeira Renata d'Oliveira Margarida Venâncio Ana Moreno |
| author_facet | Miguel Pinto de Gouveia Inês Coutinho Vera Teixeira Renata d'Oliveira Margarida Venâncio Ana Moreno |
| author_sort | Miguel Pinto de Gouveia |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-18T02:29:39Z |
| format | Article |
| id | doaj.art-ab670cb22cf44124ad9dee946b2662e9 |
| institution | Directory Open Access Journal |
| issn | 0365-0596 |
| language | English |
| last_indexed | 2024-12-18T02:29:39Z |
| publishDate | 2016-12-01 |
| publisher | Sociedade Brasileira de Dermatologia |
| record_format | Article |
| series | Anais Brasileiros de Dermatologia |
| spelling | doaj.art-ab670cb22cf44124ad9dee946b2662e92022-12-21T21:23:55ZengSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia0365-05962016-12-0191683783910.1590/abd1806-4841.20164922Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicismMiguel Pinto de GouveiaInês CoutinhoVera TeixeiraRenata d'OliveiraMargarida VenâncioAna MorenoAbstract 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.http://www.scielo.br/pdf/abd/v91n6/0365-0596-abd-91-06-0837.pdfHyperpigmentationHypopigmentationMosaicismTrisomy |
| spellingShingle | Miguel Pinto de Gouveia Inês Coutinho Vera Teixeira Renata d'Oliveira Margarida Venâncio Ana Moreno Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism Anais Brasileiros de Dermatologia Hyperpigmentation Hypopigmentation Mosaicism Trisomy |
| 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 | Hyperpigmentation Hypopigmentation Mosaicism Trisomy |
| url | http://www.scielo.br/pdf/abd/v91n6/0365-0596-abd-91-06-0837.pdf |
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