Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children.
BACKGROUND
Cutaneous patterned hypopigmentation's phenotype is highly variable and may be associated with extracutaneous anomalies.


OBJECTIVE
We evaluated the phenotypic and clinical characteristics of patients with cutaneous patterned hypopigmentation to determine whether certain patterns were more likely to be associated with underlying anomalies.


METHODS
The charts of 106 children with cutaneous patterned hypopigmentation were reviewed retrospectively (2007-2018) at Sainte-Justine University Hospital Centre, in Montreal, Canada. Retrieved information included sex, age at diagnosis, phototype, pattern, and distribution of the cutaneous lesions and the presence of extracutaneous findings. Data were recorded on a software tool which collects and analyzes phenotypic information.


RESULTS
The predominant types of cutaneous patterned hypopigmentation were along Blaschko's lines in narrow (38.7%) and broad bands (53.8%). Mixed patterns were observed in 22.5% of children. The anterior trunk and posterior trunk were most frequently affected (69% and 56%, respectively). Extracutaneous involvement, especially neurological and developmental, was present in 28.3% of patients and was significantly associated with ≥ 4 involved body sites.


CONCLUSION
Distribution and types of cutaneous patterned hypopigmentation were not predictive of extracutaneous findings, with the exception of multiple sites involvement and possibly centrofacial location and blocklike lesions. Follow-up until school entry should help identify subtler associated extracutaneous anomalies.
['Belzile|Eugénie|E|https://orcid.org/0000-0003-1931-4766', 'McCuaig|Catherine|C|', 'Le Meur|Jean-Baptiste|JB|', 'Coulombe|Jérôme|J|https://orcid.org/0000-0003-1261-3093', 'Hatami|Afshin|A|', 'Powell|Julie|J|', 'Rivière|Jean-Baptiste|JB|', 'Marcoux|Danielle|D|']
D002648:Child D002675:Child, Preschool D005260:Female D006801:Humans D017496:Hypopigmentation D007223:Infant D007231:Infant, Newborn D008297:Male D010641:Phenotype D011792:Quebec D012189:Retrospective Studies
hypopigmentation genetics hypomelanosis of Ito mosaicism