Laboratory of Histology and Cytogenetics (Research Unit of Genetic, Genotoxicity and Childhood Diseases UR12ES10), Faculty of Medicine, University of Monastir, Street Avicenne, 5019, Monastir, Tunisia.
Department of Pediatrics, Tahar Sfar University Hospital, Mahdia, Tunisia.
Pediatr Blood Cancer. 2018 Sep;65(9):e27262. doi: 10.1002/pbc.27262. Epub 2018 May 24.
Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions started from the face and spread to the extremities and trunk. Neutropenia was initially periodic and concomitant with infections periods. DNA analysis identified a novel homozygous deletion of a 1-bp (c.161delC, p.P54RfsX60) in the C16orf57gene, presumed to be causative. This report presents the variability of the clinical manifestations and evolution of PN and emphasizes the importance of studying other patients with PN to better delineate mutations profile among populations.
色素减退伴中性粒细胞减少症（PN）是一种以色素减退、永久性中性粒细胞减少、反复感染、指甲异常和掌跖过度角化为特征的遗传性皮肤病。我们报告了一例来自突尼斯的 PN 患者。皮肤病变始于面部，蔓延至四肢和躯干。中性粒细胞减少症最初是周期性的，并伴有感染期。DNA 分析鉴定出 C16orf57 基因中 1 个碱基（c.161delC，p.P54RfsX60）的纯合缺失，推测为致病原因。本报告介绍了 PN 的临床表现和演变的变异性，并强调了研究其他 PN 患者的重要性，以便更好地阐明人群中的突变谱。
