Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Department of Genetics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Pediatr Dermatol. 2021 Nov;38(6):1592-1593. doi: 10.1111/pde.14852. Epub 2021 Nov 8.
A 4-year-old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and proximal extremities. With the clinical suspicion of Conradi-Hünermann-Happle syndrome, genetic testing was performed and revealed a mutation in the EBP gene. Despite characteristic cutaneous findings, no skeletal, ocular, or other anomalies were found on further evaluation.
一位 4 岁女孩因先天性头皮脱发斑就诊,体格检查与斑状脱发性表皮萎缩一致。躯干和近端肢体也可见类似的萎缩性色素减退斑。临床怀疑为 Conradi-Hünermann-Happle 综合征,行基因检测发现 EBP 基因突变。尽管有特征性的皮肤表现,但进一步评估未发现骨骼、眼部或其他异常。