Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Issue 3 (11th February 2020)

• Record Type: Journal Article
• Authors: Quintana Castanedo, Lucía; Sánchez Orta, Alba; Maseda Pedrero, Rocío; Santos Simarro, Fernando; Palomares Bralo, María; Feito Rodríguez, Marta; de Lucas Laguna, Raúl
• Is Part Of: Pediatric dermatology. Volume 37:Issue 3(2020)
• Page Start: 517
• Page End: 519
• Publication Date: 2020-02-11
• Subjects: enamel hypoplasia -- keratosis pilaris -- retronychia -- SON mutation; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14113
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: Zhu‐Tokita‐Takenouchi‐Kim (ZTTK) syndrome is a rare, severe, and recently described multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability, characteristic facial features, hypotonia, poor overall growth, and visual abnormalities. Mucocutaneous manifestations have not been reported so far among individuals with ZTTK syndrome. Herein, we present a patient with ZTTK syndrome due to a de novo mutation in SON gene, who has dental abnormalities and retronychia of the toenails. We suggest that mucocutaneous features may be a part of the phenotype.