title: 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 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.
authors.affiliation: Coimbra University Hospital Centre (CHUC) - Coimbra, Portugal.
authors.forename: Miguel Pinto de
authors.initials: MP
authors.lastname: Gouveia
authors.affiliation: Coimbra University Hospital Centre (CHUC) - Coimbra, Portugal.
authors.forename: Inês
authors.initials: I
authors.lastname: Coutinho
authors.affiliation: Coimbra University Hospital Centre (CHUC) - Coimbra, Portugal.
authors.forename: Vera
authors.initials: V
authors.lastname: Teixeira
authors.affiliation: Coimbra University Hospital Centre (CHUC) - Coimbra, Portugal.
authors.forename: Renata
authors.initials: R
authors.lastname: d'Oliveira
authors.affiliation: Coimbra University Hospital Centre (CHUC) - Coimbra, Portugal.
authors.forename: Margarida
authors.initials: M
authors.lastname: Venâncio
authors.affiliation: Coimbra University Hospital Centre (CHUC) - Coimbra, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Moreno
mesh_terms: D002648:Child; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics* / Q000473:pathology*; D006983:Hypertrichosis / Q000235:genetics / Q000473:pathology; D017496:Hypopigmentation / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009030:Mosaicism; D012868:Skin Abnormalities / Q000473:pathology*; D013577:Syndrome; D014314:Trisomy / Q000473:pathology*; D024182:Uniparental Disomy / Q000473:pathology*