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



Asgari T1 ; Naji M2, 3 ; Mansouri P4 ; Mahmoudi H5 ; Zabihi M6 ; Youssefian L2, 3 ; Mahdavi M7 ; Naraghi ZS8 ; Zeinali S6, 9 ; Vahidnezhad H2, 3 ; Uitto J2, 3
Authors

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.
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