Abstract: Objective: To report a case of palmoplantar keratoderma, identify the pathogenic gene, and assist in confirming the clinical diagnosis. Methods: Clinical data and peripheral blood samples were collected from the patient, as well as from the patient's parents and sister. Genomic DNA was extracted from the peripheral blood of all participants. Whole-exome sequencing was performed to identify potential pathogenic mutations in the patient. The identified mutations were subsequently validated using Sanger sequencing. Results: The patient was found to carry compound heterozygous mutations in the SLURP-1 gene: c.256G＞A and c.110G＞A. Genetic analysis revealed that the father carried a heterozygous c.110G＞A mutation, while the mother carried a heterozygous c.256G＞A mutation. Based on the clinical presentation of diffuse waxy hyperkeratosis on the palms and soles, the patient was diagnosed with Mal de Meleda. Conclusion: This study confirmed the diagnosis and identified the pathogenic gene responsible for the condition in this patient.

Key words: Mal de Meleda, SLURP-1, gene mutation, palmoplantar keratoderma