KID syndrome with p.Asp50Asn mutation in GJB2
DOI:
https://doi.org/10.47196/56fkkn36Keywords:
KID syndrome, p.Asp50Asn mutation, GJB2, genodermatosisAbstract
KID syndrome (keratitis, ichthyosis, deafness) is a rare genodermatosis with autosomal dominant inheritance, caused by mutations in the GJB2 gene encoding connexin 26. We report the case of a male patient clinically diagnosed in childhood, presenting with erythrokeratoderma, progressive vascularizing keratitis, and congenital sensorineural hearing loss. Genetic testing confirmed the p.Asp50Asn mutation in GJB2, the most common pathogenic variant associated with this condition. We describe the clinical features and complications, and discuss pathophysiological, genetic, and therapeutic aspects, including classical treatments and emerging molecular strategies under investigation.
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