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.

伴中性粒细胞减少症 (PN) 的 Clericuzio 型皮肤异色病是一种罕见的常染色体隐性遗传性遗传皮肤病，由USB1基因中的双等位基因突变引起，其特征是早发性皮肤异色病和慢性中性粒细胞减少症。指甲营养不良、掌跖角化过度、低促性腺激素性性腺机能减退和反复感染可能与该疾病有关。在此，我们介绍了一名 27 岁土耳其男性患者，在确认USB1外显子 5 中存在 c.531delA（p.His179MetfsX86）纯合有害突变后，新诊断为 Clericuzio 型 PN基因。本案例强调了基因检测对于避免仅基于临床发现的误诊的重要性，以及多学科诊断方法的好处，因为他最初被误诊为 Rothmund-Thompson 综合征，随后被诊断为 PN，Clericuzio 型27 岁时。