A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings. Issue 2 (17th February 2022)

• Record Type: Journal Article
• Authors: Cai, Zhuo Ran; McCuaig, Catherine; Hatami, Afshin; Rivière, Jean‐Baptiste; Marcoux, Danielle
• Is Part Of: Pediatric dermatology. Volume 39:Issue 2(2022)
• Page Start: 281
• Page End: 287
• Publication Date: 2022-02-17
• Subjects: acral -- brain anomalies -- hypopigmentation; genetics; mosaicism; hypomelanosis of Ito -- ocular -- RHOA variants; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14923
• Languages: English
• ISSNs: 0736-8046

Abstract

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.