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
Article
in English
| LILACS
| ID: biblio-837988
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Skin Abnormalities
/
Trisomy
/
Hypopigmentation
/
Hyperpigmentation
Limits:
Child
/
Humans
/
Male
Language:
English
Journal:
An. bras. dermatol
Journal subject:
Dermatology
Year:
2016
Type:
Article
Affiliation country:
Portugal
Institution/Affiliation country:
Coimbra University/PT
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