Servicio de Dermatología, Instituto Nacional de Pediatría, Ciudad de México, México.
Bol Med Hosp Infant Mex. 2020;77(3):112-118. doi: 10.24875/BMHIM.19000173.
Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells) protein from migrating to the nucleus to begin the transcription of factors that amplify the immune response and prevent apoptosis. Consequently, mutant cells become vulnerable to apoptosis when exposed to cytokines and, in turn, lead to vaso-occlusion and ischemia of tissues, such as the skin, the central nervous system and the retina. Dermatological lesions are characteristic and occur in 100% of patients; they are distributed along Blaschko lines, which follow the pattern of migration of skin cells in embryogenesis. The cutaneous manifestations follow a sequence of four phases since birth: vesicular, verrucous, hyperpigmented and hypopigmented. These lesions are relevant for the disease because they guide the clinician towards the diagnosis. Additionally, they are accompanied by neurological abnormalities, such as seizures, and multiple ophthalmological manifestations, such as retinal detachment. Incontinentia pigmenti patients with no clinically significant ophthalmic or neurological compromise have a good prognosis and a normal life expectancy. The abnormalities present are permanent, which can be a cause of concern for the patients.
遗传性皮肤病卟啉病是一种 X 连锁的皮肤遗传病，通常在男性中是致命的；因此，它几乎只在女性中出现。它是由 IKBKG（B 细胞κ轻链增强子核因子激酶γ）基因的功能丧失突变引起的，该突变阻止 NFкβ（核因子κ轻链增强子激活的 B 细胞）蛋白迁移到细胞核，从而开始转录放大免疫反应并防止细胞凋亡的因子。因此，当突变细胞暴露于细胞因子时，它们变得容易凋亡，进而导致血管阻塞和皮肤、中枢神经系统和视网膜等组织的缺血。皮肤病变是特征性的，发生在 100%的患者中；它们沿着 Blaschko 线分布，这些线遵循胚胎发生中皮肤细胞迁移的模式。皮肤表现从出生后开始经历四个阶段的序列：水疱、疣状、色素沉着和色素减退。这些病变与疾病相关，因为它们指导临床医生进行诊断。此外，它们还伴有神经异常，如癫痫发作，以及多种眼科表现，如视网膜脱离。无明显眼科或神经功能障碍的遗传性皮肤病卟啉病患者预后良好，预期寿命正常。存在的异常是永久性的，这可能是患者关注的原因。
