Keratitis-Ichthyosis-Deafness Syndrome: Phenotypic Heterogeneity and Treatment Perspective of Patients With P.Asp50asn Gjb2 Mutation Publisher Pubmed



Asgari T¹ ; Naji M^{2, 3} ; Mansouri P⁴ ; Mahmoudi H⁵ ; Zabihi M⁶ ; Youssefian L^{2, 3} ; Mahdavi M⁷ ; Naraghi ZS⁸ ; Zeinali S^{6, 9} ; Vahidnezhad H^{2, 3} ; Uitto J^{2, 3} Show Affiliations
Source: Dermatologic Therapy Published:2020

Abstract

Keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the GJB2 gene encoding connexin 26, a component of transmembrane hemichannels which form gap junction channels, critical for cell-cell communication. Here, we report two patients from two distinct families with KID syndrome with the same GJB2 mutation (p.Asp50Asn); in both cases the mutation was de novo, as the parents depicted the wild-type allele only. The patients' cutaneous manifestations were strikingly different illustrating the wide spectrum of phenotype of these patients, even with the same GJB2 mutation. One of the patients was treated with acitretin with dramatic improvement in his skin findings, illustrating the role of oral acitretin in treatment of patients with KID syndrome. Collectively, these patients attest to the phenotypic spectrum of KID syndrome, with therapeutic perspective. © 2020 Wiley Periodicals LLC.