Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism
An. bras. dermatol
; 91(6): 837-839, Nov.-Dec. 2016. graf
Artigo
em Inglês
| LILACS
| ID: biblio-837988
Biblioteca responsável:
BR1.1
ABSTRACT
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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Anormalidades da Pele
/
Trissomia
/
Hipopigmentação
/
Hiperpigmentação
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
An. bras. dermatol
Assunto da revista:
Dermatologia
Ano de publicação:
2016
Tipo de documento:
Artigo
País de afiliação:
Portugal
Instituição/País de afiliação:
Coimbra University/PT