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A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous
Zhuo Ran Cai1, Catherine McCuaig1, Afshin Hatami1
1Division of Pediatric Dermatology, Department of Pediatrics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, Canada.
Abstract:
RHOA-related neuroectodermal syndrome is characterised by linear skin hypopigmentation along Blaschko's lines associated with alopecia, leukoencephalopathy, facial and limb hypoplasia, and ocular, dental, and acral anomalies. Herein, we report a patient with patterned cutaneous hypopigmentation with a similar phenotype due to a novel postzygotic RHOA variant (c.210G>T; p.Arg70Ser). This illustrates that the complexity of the orchestration of morphogenesis and organogenesis can be affected by different variants in the same gene.
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