Yuan Fang, Zhu Feng-Na, Liu Xiao-Juan, Li Jun, Xu Hong-Tao
Department of Pediatrics, General Hospital of Central Theater Command of the People's Liberation Army, Wuhan, 430070, People's Republic of China.
Department of Neonatology, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, People's Republic of China.
Clin Cosmet Investig Dermatol. 2023 May 9;16:1209-1214. doi: 10.2147/CCID.S407506. eCollection 2023.
Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is an X-linked dominant genetic disease involving multiple systems. Previous literature has not reported the case of parents with negative genetic test results, and typical early clinical symptoms and auxiliary inspection results were also lacking.
A female child was found to have broken skin immediately after birth with no family inheritance disease, and the area of the broken skin increased. Immediately afterward, Head magnetic resonance imaging (MRI) showed multiple blood lesions in the brain. Then, the wide-angle digital retinal imaging system suggesting that fundus fluorescein angiography showed fundus vascular loop-like changes. And blood genetic testing showed that exons 4-10 of the NEMO gene located in Xq28 were deleted. The patient was eventually diagnosed with IP. However, her parents were a non-consanguineous healthy couple, with no specific skin, oral, or perineal diseases. And her parents' blood genetic testing showed that the parents and sisters of the patient did not have the NEMO gene exon deletion of Xq28.
This case demonstrates the process from suspected neonatal IP cases without familial inheritance to diagnosis, which showed the typical early clinical symptoms and auxiliary inspection results. This case showed that the parents of patients with IP do not necessarily have clinical symptoms and positive symptoms of genetic testing results.
色素失禁症（IP），又称布洛赫 - 苏尔茨贝格综合征，是一种涉及多系统的X连锁显性遗传病。既往文献未报道过基因检测结果为阴性的父母的病例，也缺乏典型的早期临床症状及辅助检查结果。
一名女婴出生后即发现皮肤破损，无家族遗传病史，且破损面积增大。随后，头部磁共振成像（MRI）显示脑部有多处血灶。接着，广角数字视网膜成像系统提示眼底荧光血管造影显示眼底血管呈环状改变。血液基因检测显示位于Xq28的NEMO基因外显子4 - 10缺失。该患者最终被诊断为色素失禁症。然而，她的父母是一对非近亲的健康夫妇，无特异性皮肤、口腔或会阴疾病。且其父母的血液基因检测显示患者的父母及姐妹均无Xq28的NEMO基因外显子缺失。
本病例展示了从无家族遗传的疑似新生儿色素失禁症病例到诊断的过程，呈现出典型的早期临床症状及辅助检查结果。该病例表明色素失禁症患者的父母不一定有临床症状及基因检测结果阳性表现。
