Abstract: Objective: We reported a three-generation pedigree of progressive symmetric erythematous keratoderma which consisted of 3 patients and 2 healthy members. The proband was initially diagnosed with palmoplantar keratoderma clinically. To further clarify the diagnosis and identify the pathogenic mutation, genetic testing was conducted on members of the family. Methods: Whole-exome sequencing was used to determine the pathogenic mutation and Sanger sequencing verified the authenticity of the mutation. Results: The pathogenic mutation in this pedigree was c.3119T>C (p.Ile1040Thr) in TRPM4. Conclusion: The final diagnosis was progressive symmetric erythrokeratoderma based on the result of whole-exome sequencing and the clinical manifestations of the patients in the family.

Key words: progressive symmetric erythrokeratoderma, whole-exome sequencing, pedigree analysis, Sanger sequencing