Chantorn Rattanavalai, Shwayder Tor
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Pediatr Dermatol. 2012 Jul-Aug;29(4):463-72. doi: 10.1111/j.1525-1470.2011.01513.x. Epub 2011 Oct 4.
Poikiloderma with neutropenia (PN), Clericuzio type (OMIM #604173) is a new, unique genodermatosis first described by Clericuzio et al (Am J Med Genet A, 2011, 155, 337) in Navajo Indian population. This disease is characterized by poikiloderma that usually develops in the first year of life and is associated with nail abnormality, palmoplantar hyperkeratosis, chronic neutropenia, and recurrent infections. The rash typically starts from the extremities and spreads centripetally to involve the trunk, face, and ears. Recently, a homozygous mutation in the C16orf57 gene on chromosome 16q13 was identified as a strong candidate as the gene responsible for PN. We report three cases of PN whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis of PN. One child has developed multiple painful calcinosis cutis lesions. Early-onset poikiloderma should prompt a complete blood count as a screening test.
克勒里库齐奥型伴中性粒细胞减少症的皮肤异色症（PN，OMIM编号#604173）是一种新的、独特的遗传性皮肤病，最初由克勒里库齐奥等人（《美国医学遗传学杂志A》，2011年，第155卷，第337页）在纳瓦霍印第安人群体中描述。这种疾病的特征是皮肤异色症，通常在出生后第一年出现，并伴有指甲异常、掌跖角化过度、慢性中性粒细胞减少和反复感染。皮疹通常从四肢开始，向心性扩散至躯干、面部和耳部。最近，16号染色体16q13上的C16orf57基因中的纯合突变被确定为PN致病基因的有力候选基因。我们报告了3例PN病例，其临床表现、实验室检查和C16orf57突变均支持PN的诊断。其中一名儿童出现了多处疼痛性皮肤钙化病变。早发性皮肤异色症应促使进行全血细胞计数作为筛查试验。
