Developmental Delay in Children with X-Linked Ichthyosis: A Case Series

Abstract

dermatologic disorder characterized by large, dark brown scales similar to fish scales. It starts primarily on the extensor surfaces and the side of the trunk symmetrically, becomes widely distributed, and then disappears throughout childhood. Most cases of XLI are caused by mutations in the steroid sulfatase (STS) gene (online Mendelian inheritance in men [OMIM] * 300747), which is located on the short arm of the X chromosome at Xp22.3 and encodes the STS enzyme [1]. Most XLI patients (90%) have large deletions within or including STS [2]. These patients display various clinical symptoms, as well as skin lesions. Baek and Aypar [3] reported a 5-year-old girl who presented with mild autism, attention-deficit hyperactivity disorder (ADHD), and dry, scaly skin on the body. A chromosomal microarray (CMA) revealed a large deletion, including STS and neuroligin 4, OMIM*300427 (NLGN4), associated with ADHD and autism [3]. Here, we report three children with XLI and developmental delay. We confirmed XLI and the presence of a large deletion through CMA with a single-nucleotide polymorphism (SNP) array and also investigated other associated clinical symptoms. The clinical characteristics of the three patients pISSN 2635-909X • eISSN 2635-9103 Ann Child Neurol 2021;29(4):186-189 https://doi.org/10.26815/acn.2021.00402