Gabaton Niña, Kannu Peter, Pope Elena, Shugar Andrea, Lara-Corrales Irene
Section of Dermatology, Division of Paediatric Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Pediatr Dermatol. 2020 Sep;37(5):868-871. doi: 10.1111/pde.14222. Epub 2020 Jun 29.
Cole disease is a rare autosomal dominant genodermatosis with only five cases published in literature since its first description in 1976. We report a case of a 3-year-old boy of Italian ancestry who presented with hypopigmented skin patches on the upper extremities and multiple yellowish, firm papules and small plaques on his palms and soles. There were similar findings in the family, extending back at least four generations. Whole exome sequence analysis revealed a novel variant of the ENPP1 gene mutation, which has not been previously reported to be associated with Cole disease. Although there is no extracutaneous involvement associated with this condition, accurate diagnosis and variant identification is nevertheless important so that appropriate medical and genetic counseling can be offered to affected individuals and their at-risk relatives.
科尔病是一种罕见的常染色体显性遗传性皮肤病，自1976年首次被描述以来，文献中仅报道过5例。我们报告了一例祖籍为意大利的3岁男孩，他上肢有色素减退性皮肤斑块，手掌和脚底有多个淡黄色、质地坚硬的丘疹和小斑块。其家族中也有类似表现，至少可追溯到四代以前。全外显子组测序分析发现了ENPP1基因突变的一种新变体，此前尚未有该变体与科尔病相关的报道。尽管这种疾病没有皮肤外受累情况，但准确诊断和变体鉴定仍然很重要，以便能够为受影响的个体及其有患病风险的亲属提供适当的医疗和遗传咨询。
