| Revue: | Anais brasileiros de dermatologia |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000404138 |
| ISSN: | 0365-0596 |
| Autores: | Gouveia, Miguel Pinto de1 Coutinho, Ines1 Teixeira, Vera1 d'Oliveira, Renata1 Venancio, Margarida1 Moreno, Ana1 |
| Instituciones: | 1Universidade de Coimbra, Centro Hospitalar, Coimbra. Portugal |
| Año: | 2016 |
| Periodo: | Nov-Dic |
| Volumen: | 91 |
| Número: | 6 |
| Paginación: | 837-839 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico |
| Resumen en inglés | 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 |
| Disciplinas: | Medicina |
| Palabras clave: | Dermatología, Genética, Mosaicismo, Trisomía 7, Despigmentación |
| Keyword: | Medicine, Dermatology, Genetics, Mosaicism, Trisomy 7, Depigmentation |
| Texte intégral: | Texto completo (Ver HTML) |
