Department of Emergency, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), No.69, Xiju Yuan Lane, Lianhu District, Xi'an, 86-710003, Shaanxi, People's Republic of China.
Department of Imaging, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), Xi'an, 86-710003, Shaanxi, People's Republic of China.
BMC Neurosci. 2024 May 21;25(1):25. doi: 10.1186/s12868-024-00872-1.
Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene. The pathogenesis of central nervous system injury is believed to be related to microvascular ischemia. Currently, few treatment strategies are available for the inflammatory phase.
This retrospective descriptive analysis included the clinical data of 41 children with IP collected from 2007 to 2021 in Xi'an, China, comprising clinical characteristics, imaging findings, blood cell analysis, skin histopathology, and genetic data.
Fourteen children (34%) aged 4 days to 5 months exhibited clinical signs and symptoms, including convulsions, delayed psychomotor development following neurological damage, and revealed significant MRI abnormalities, including ischemia, hypoxia, cerebral hypoperfusion, hemorrhage, encephalomalacia, and cerebral atrophy. Eight of the 24 patients (33%) presented with retinal vascular tortuosity and telangiectasis, accompanied by neovascularization and hemorrhage. Thirty-eight children (93%) had elevated eosinophils (mean: 3.63 ± 4.46 × 10), and 28 children (68%) had significantly elevated platelets (mean: 420.16 ± 179.43 × 10). Histopathology of skin revealed microvascular extravasation and vasodilation with perivascular and intravascular eosinophilic infiltration.
Brain injury in IP occurs during infancy until 5 months of age, which is also the acute dermatitis phase accompanied by eosinophilia and an increased platelet count. This study provides evidence of microvascular damage to the skin and fundus during the inflammatory phase. The mechanism of microvascular damage may be similar to that in the brain.
色素失禁症（IP）是一种罕见的神经外胚层发育不良，由 IKBKG 基因缺陷引起。中枢神经系统损伤的发病机制被认为与微血管缺血有关。目前，针对炎症期，尚无有效的治疗策略。
本回顾性描述性分析纳入了 2007 年至 2021 年在中国西安收集的 41 例 IP 患儿的临床资料，包括临床特征、影像学表现、血细胞分析、皮肤组织病理学和遗传学数据。
14 例（34%）年龄 4 天至 5 个月的患儿表现出临床症状和体征，包括癫痫发作、神经损伤后运动发育迟缓，并显示出明显的 MRI 异常，包括缺血、缺氧、脑低灌注、出血、脑软化和脑萎缩。24 例患儿中的 8 例（33%）表现为视网膜血管迂曲和扩张，伴有新生血管形成和出血。38 例患儿（93%）嗜酸性粒细胞升高（均值：3.63±4.46×10），28 例患儿（68%）血小板明显升高（均值：420.16±179.43×10）。皮肤组织病理学显示微血管渗出、血管扩张，伴有血管周围和血管内嗜酸性粒细胞浸润。
IP 患儿的脑损伤发生在婴儿期至 5 个月大，这也是伴有嗜酸性粒细胞增多和血小板计数升高的急性皮炎期。本研究为炎症期皮肤和眼底的微血管损伤提供了证据。微血管损伤的机制可能与大脑相似。
