Özyurt Kemal, Atasoy Mustafa, Ertaş Ragıp, Ulaş Yılmaz, Akkuş Muhammed Reşat, Kiraz Aslıhan, Hennies Hans Christian
Dermatology Clinic, Kayseri Training and Research Center, Kayseri, Turkey.
Medical Genetics Health Science University, Kayseri Training and Research Center, Kayseri, Turkey.
Turk J Pediatr. 2019;61(4):604-607. doi: 10.24953/turkjped.2019.04.020.
Özyurt K, Atasoy M, Ertaş R, Ulaş Y, Akkuş MR, Kiraz A, Hennies HC. Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C. Turk J Pediatr 2019; 61: 604-607. Netherton syndrome (NS, MIM256500) is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, and elevated serum IgE levels. The genetic bases of Netherton syndrome are mutations in the gene SPINK5, and the Lymphoepitheial Kazal type related inhibitor, a serine protease inhibitor, is encoded by SPINK. Here a case is presented which showed a probable splice site mutation in SPINK5, which was previously unknown in databases and the literature, to point out the misdiagnosis of Hyper IgE Syndrome in the early presentation of the phenotype. This case highlights that a genetic test can be critical for identifying NS. The finding of underlying mutations contributes to the understanding of Netherton syndrome and is instrumental in indicating a specific therapy. Notably, treatment with acitretin has significantly improved both the ichthyosis linearis circumflexa and eczema in our patient.
厄祖尔特·K、阿塔索伊·M、埃尔塔什·R、乌拉什·Y、阿克库什·MR、基拉兹·A、亨尼斯·HC。先前被误诊为高免疫球蛋白E综合征的Netherton综合征，可能由SPINK5基因的突变引起。《土耳其儿科学杂志》2019年；61: 604 - 607。Netherton综合征（NS，MIM256500）是一种常染色体隐性疾病，包括回旋线状鱼鳞病以及易患过敏、哮喘和湿疹，伴有嗜酸性粒细胞增多、套叠性脆发症和血清免疫球蛋白E水平升高。Netherton综合征的遗传基础是SPINK5基因突变，而淋巴细胞上皮Kazal型相关抑制剂（一种丝氨酸蛋白酶抑制剂）由SPINK编码。本文报告了一例病例，该病例显示SPINK5基因可能存在剪接位点突变，这在数据库和文献中此前均未知，旨在指出在该表型早期表现时高免疫球蛋白E综合征的误诊情况。该病例强调基因检测对于识别Netherton综合征可能至关重要。潜在突变的发现有助于对Netherton综合征的理解，并有助于指明特定治疗方法。值得注意的是，阿维A治疗显著改善了我们患者的回旋线状鱼鳞病和湿疹。
