Lai Hui-Jun, Lai Mei-Yan, Ma Ping-Ping, Guo Hong-Wei
The First Clinical Medical School Guangdong Medical University Zhanjiang Guangdong China.
Department of Dermatology Affiliated Hospital of Guangdong Medical University Zhanjiang Guangdong China.
Skin Health Dis. 2023 Jul 26;3(5):e270. doi: 10.1002/ski2.270. eCollection 2023 Oct.
Aplasia cutis congenita (ACC) is defined as complete or partial loss or absence of skin at birth and it can occur on any part of the body, but most commonly on the scalp. Single offspring with ACC have been reported in most case reports, but cases in twins are rarely reported. Here, we report two cases of ACC, monozygotic twin boys presented with scattered skin absence over the scalp vertex after birth. All the lesions presented as ulcers with no hair and healed with scars, otherwise, the twins were well developed mentally and physically. In addition, the whole exome sequencing of the twins and their parents might provide diagnosis and classification assistance.
先天性皮肤发育不全（ACC）被定义为出生时皮肤完全或部分缺失或没有皮肤，可发生在身体的任何部位，但最常见于头皮。大多数病例报告中报道的是单例患有ACC的后代，但双胞胎病例很少被报道。在此，我们报告两例ACC病例，单卵双胞胎男孩出生后头皮顶部出现散在的皮肤缺失。所有病变均表现为无毛发的溃疡，愈合后留有瘢痕，除此之外，这对双胞胎智力和身体发育良好。此外，对这对双胞胎及其父母进行的全外显子组测序可能有助于诊断和分类。
