女性X-连锁网状色素异常症

A case of female X-Linked reticulate pigmentary disorder

目的:报告国内首例女性X-连锁网状色素异常症(XLRPD),并初步研究其遗传及免疫组化特征。方法:抽外周血提取DNA,PCR扩增POLA1基因的第13内含子后测序,检测其突变情况。取患者典型皮损行HE、刚果红染色及免疫组化检测细胞角蛋白(CK)、CK5/6、高分子细胞角蛋白(CK-H)、低分子细胞角蛋白(CK-L)、λ轻链、κ轻链。结果:POLA1基因第13内含子目标碱基(NC000023.10:g.24744696)未见突变。皮损组织病理检查示真皮乳头层见明显淀粉样物质,刚果红染色阳性,免疫组化示CK(-)、CK5/6(-)、CK-H(+)、CK-L(-)、λ轻链(+)、κ轻链(+)。结论:除POLA1基因(NC000023.10:g.24744696A>G)突变外,XLRPD还存在其他突变位点,具有遗传异质性。XLRPD中淀粉样物质具有角蛋白属性,免疫球蛋白介导的免疫调理作用参与了本病的发生。

Objective:To report a case of female X-Linked reticulate pigmentary disorder(XLRPD)and to elucidate its genetic and immunohistochemical characteristics.Methods:Following extraction of DNA from peripheral blood,intron 13 of POLA1 was amplified using polymerase chain reaction(PCR),and mutations were determined by genome sequencing.HE and Congo red staining,and immunohistochemistry were performed to detect CK,CK5/6,CK-H,CK-L,λlight chain andκlight chain in patients’skin samples.Results:No mutation was found in the target base(NC000023.10:g.24744696)in intron 13 of POLA1.Pathological examination of skin lesions revealed positive for Congo red staining,indicating amyloid deposition,in the dermal papillae.Immunohistochemical staining showed positive for CK-H,λlight chain andκlight chain,but negative for CK,CK5/6 and CK-L expression.Conclusions:In addition to POLA1 mutation(NC000023.10:g.24744696 A>G),there are other genetically heterogeneous mutation sites associated with XLRPD.Amyloid deposition in XLRPD exhibits keratin-like properties,suggesting that immunoglobulin-mediated immune response is involved in the onset of the disease.