Schnur R E, Greenbaum B H, Heymann W R, Christensen K, Buck A S, Reid C S
Department of Pediatrics at the Children's Hospital of Philadelphia, Pennsylvania, USA.
Am J Med Genet. 1997 Oct 3;72(1):24-9.
The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear defects. We report on the sixth child with this syndrome and the first of these to develop acute lymphoblastic leukemia at age 4 1/2 years. Her major problems included a migratory ichthyosiform dermatosis, multiple skin infections and infestations, bilateral retinal coloboma, developmental delay, seizures, infantile macrosomia, facial anomalies, a duplicated renal collecting system, and conductive hearing loss. Histologic examination of the skin demonstrated findings of an epidermal nevus with deep rete pegs, hyperkeratosis, and a markedly increased granular layer. The cause of the CHIME syndrome is unknown, but the disorder is easily recognized because of the striking phenotype. The diagnosis is important to make because of the potential for associated congenital heart disease, neurologic compromise, possible autosomal recessive inheritance, and possible association with malignancy.
“CHIME”综合征（MIM#280000）是一种罕见的神经外胚层疾病，由眼部缺损、心脏缺陷、鱼鳞病样皮肤病、智力障碍和耳部缺陷组成。我们报告了第六例患有该综合征的患儿，也是首例在4岁半时患急性淋巴细胞白血病的患儿。她的主要问题包括游走性鱼鳞病样皮肤病、多处皮肤感染和寄生虫感染、双侧视网膜缺损、发育迟缓、癫痫发作、婴儿巨大症、面部畸形、重复肾集合系统以及传导性听力损失。皮肤组织学检查显示为表皮痣，伴有深部 rete 钉、角化过度和颗粒层明显增厚。CHIME综合征的病因尚不清楚，但由于其显著的表型，该疾病很容易识别。做出诊断很重要，因为可能存在相关的先天性心脏病、神经功能损害、可能的常染色体隐性遗传以及可能与恶性肿瘤有关。
