A Case of Hystrix-Like Ichthyosis and Deafness Syndrome with a Rare Variant of Gap Junction Protein Beta 2 Gene Mutation / 대한피부과학회지

ABSTRACT

Hystrix-like ichthyosis and deafness (HID) syndrome is a rare ectodermal dysplasia characterized by erythrokeratoderma and hearing impairments. HID syndrome is a nonocular variant of keratitis ichthyosis deafness (KID) syndrome caused by an autosomal dominant mutation in the gap junction protein β 2 (GJB2) gene. The GJB2 gene encodes connexin 26, a transmembrane protein involved in cell–cell attachment in almost all tissues. We report a case of a 25-year-old man with generalized hyperkeratotic plaques, diffuse palmoplantar keratoderma, and nail deformities since birth. The patient also had a history of recurrent bacterial skin infections in the existing hyperkeratotic lesions. Histopathological examination revealed compact hyperkeratosis and irregular acanthosis in the epidermis, along with upper dermal lymphocytic infiltration. Audiometry revealed high-frequency sensorineural hearing loss. Genetic analysis revealed a missense mutation in the GJB2 gene. Based on clinicopathological findings and genetic testing, HID syndrome was diagnosed.