Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg

Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder caused by mutations in GJB2 encoding connexin (Cx) 26. Cxs are membrane proteins that are primarily involved in intercellular communication. Six Cx molecules are oligomerized to form a connexon (hemichannel), which docks at cell–cell contact points to form a gap junction intercellular channel that allows exchanges between neighbouring cells. The p.Asp50Asn mutation is a recurrent mutation (80% of patients), but other mutations have also been reported, namely p.Gly12Arg, p.Asp50Tyr, p.Ser17Phe, p.Gly45Glu, p.Gly12Cys and p.Ala88Val (1). KID syndrome is an autosomal dominant condition with some familial cases, but the majority of cases are sporadic. Patients with KID syndrome present with vascularizing keratitis and hearing loss in conjunction with various skin manifestations (erythematous lesions, hyperkeratotic plaques, palmoplantar keratoderma, inflammatory nodules), alopecia and dystrophic nails. Patients also show increased susceptibility to viral, bacterial and mycotic infections and some types of skin cancer. Patients with a life-threatening disease have occasionally been reported. We report here a new case of KID syndrome with early childhood death caused by the GJB2 mutation p.Gly12Arg.