关键词: 弹性纤维性假黄瘤, 临床表现, 基因测序

Abstract: A 28-year-old female presented with rash on neck and fossa cubitalis without itching and pain for more than 20 years. The patient’s peripheral blood DNA was also taken for whole exome sequencing and first generation sequencing.  ABCC6 gene mutation be detected by wholeexome sequencing and the heterozygous mutations of c.4404-1G>A and c.3703C>T was verified by first generation sequencing. According to skin damage and genetic examination, elastofibrous pseudoxanthoma was considered for diagnosis. Surgical treatment was given to treat subcutaneous nodules in upper neck, and no recurrence occurred after 6 months follow-up.

Key words: pseudoxanthoma elasticum, clinical manifestations, gene sequencing