Mal de Meleda病:G86R突变1例

A case of mal de Meleda with G86R mutation and concurrent onychomycosis

报告1例Mal de Meleda病,患者为中年男性,G86R突变且并发甲真菌病。Mal de Meleda(MDM)属于一种罕见的掌跖角化病,是一种常染色体隐性遗传疾病,由SLURP-1基因突变引起。G86R是热点突变。到目前为止,已经鉴定出至少20个患者含此突变在许多国家或地区报道,包括中国、巴勒斯坦、土耳其、爪哇、巴基斯坦、利比亚和韩国,中国有2个家系报道。该文报告1例Mal de Meleda病,丰富了MDM样本数据库,并加深对该病的认识。

Mal de Meleda(MDM),a rare form of PPK,is an autosomal recessive disease caused by mutations in the SLURP-1 gene,with possible founder effects.So far,at least 20 mutations have been identified.G86 R is a hot spot mutation reported in countries like China,Palestine,Turkey,Indonesia,Pakistan,Libya and Korea.Two Chinese cases have been reported in recent literature.Here,we report a middle-aged male case with onychomycosis,hoping to enrich the MDM sample database and deepen the understanding of the disease.