School of Medicine, Department of Dermatology and Venereology, Hacettepe University, Ankara, Turkey.
School of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
J Clin Immunol. 2020 Aug;40(6):934-939. doi: 10.1007/s10875-020-00815-5. Epub 2020 Jul 4.
Poikiloderma with neutropenia (PN), Clericuzio-type is a rare autosomal recessively transmitted genodermatosis caused by biallelic mutations in the USB1 gene and is characterized by early-onset poikiloderma and chronic neutropenia. Nail dystrophy, palmoplantar hyperkeratosis, hypogonadotropic hypogonadism, and recurrent infections can be associated with the disease. Herein, we present a 27-year-old Turkish male patient newly diagnosed as PN, Clericuzio-type after confirmation of a c.531delA (p.His179MetfsX86) homozygous deleterious mutation in exon 5 of the USB1 gene. The presented case highlights the importance of genetic testing for avoiding misdiagnosis based solely on clinical findings, as well as the benefit of a multi-disciplinary diagnostic approach, as he was initially misdiagnosed as Rothmund-Thompson syndrome and subsequently diagnosed as PN, Clericuzio-type at age 27 years.
中性粒细胞减少性斑状皮肤异色症（PN），Clericuzio 型是一种罕见的常染色体隐性遗传性皮肤病，由 USB1 基因的双等位基因突变引起，其特征为早发性斑状皮肤异色症和慢性中性粒细胞减少症。指甲营养不良、手掌足底过度角化、促性腺激素低下性性腺功能减退症和反复感染可与该疾病相关。在此，我们介绍了一位新诊断为中性粒细胞减少性斑状皮肤异色症（Clericuzio 型）的 27 岁土耳其男性患者，该患者在 USB1 基因外显子 5 中确认了 c.531delA（p.His179MetfsX86）纯合性有害突变。该病例强调了遗传检测的重要性，以避免仅基于临床发现进行误诊，以及多学科诊断方法的益处，因为他最初被误诊为 Rothmund-Thompson 综合征，随后在 27 岁时被诊断为中性粒细胞减少性斑状皮肤异色症（Clericuzio 型）。
