Abstract:

Objective To summarize the clinical manifestations and gene detection results of a child with atypical erythrokeratodermia variabilis (EKV) caused by GJB3 gene variation, and provide reference for clinicians. Methods The clinical data of a child with EKV who was admitted to the Dermatology Department of our hospital were collected. The peripheral blood DNA of the child and his parents was collected, and the pathogenic variation was identified by second-generation targeted enrichment sequencing, and verified by Sanger sequencing. Results The patient, a 16-year-old boy, visited the hospital due to "generalized dryness, facial erythema and hyperkeratotic plaques on the trunk and limbs for 16 years". Physical examination revealed pruritic erythema on the face and generalized hyperkeratosis. Through next-generation targeted enrichment sequencing and Sanger sequencing, a heterozygous missense mutation of c.256T>A (p.C86S) in the GJB3 gene was identified in the patient. The mutation was not detected in the patient's parents. Based on the clinical manifestations and genetic testing results, the patient was ultimately diagnosed with EKV. Conclusions This study reports a case of EKV with special skin lesions caused by pathogenic variants in the GJB3 gene, which is helpful for improving the clinical cognition of dermatologists on this disease.

Key words: erythrokeratodermia variabilis, GJB3, heterozygous missense mutation, child