中国麻风皮肤病杂志 ›› 2025, Vol. 41 ›› Issue (12): 865-868.doi: 10.12144/zgmfskin202512865

• 论著 • 上一篇    下一篇

SLURP-1基因突变致梅勒达病一例

邵泓源1，2,陈声利1，2,王真真1，2,田洪青1，2   

  1. 1山东第一医科大学附属皮肤病医院,山东济南，250022; 2山东省皮肤病性病防治研究所，山东济南，250022
  • 出版日期:2025-12-15 发布日期:2025-11-27

A case of Mal de Meleda caused by c.256G＞A and c.110G＞A mutations in the SLURP-1 gene

SHAO Hongyuan1,2, CHEN Shengli1,2, WANG Zhenzhen1.2, TIAN Hongqing1.2   

  1. 1 Dermatology Hospital of Shandong First Medical University, Jinan 250022, China; 2 Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan 250022, China
  • Online:2025-12-15 Published:2025-11-27

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摘要： 目的：报道1例掌跖角化病，确定其致病基因及分型。方法：收集患者的临床资料及外周血，提取患者及父母、姐姐的外周血DNA，利用全外显子测序确定患者的致病突变，应用Sanger测序验证突变位点。结果：该患者存在SLURP-1基因c.256G＞A和c.110G＞A复合杂合突变，其父存在c.110G＞A杂合突变，母存在c.256G＞A杂合突变。 结合患者掌跖弥漫性蜡状角化过度的临床表现，诊断为梅勒达病。结论：本研究明确了该患者诊断及致病基因。

关键词: 梅勒达病, SLURP-1, 基因突变, 掌跖角化病

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