Service de néphrologie, rhumatologie et dermatologie pédiatriques, Hôpital Femme Mère Enfant, centre de référence des maladies rénales rares, Hospices Civils de Lyon, 59 boulevard Pinel, 69500 Bron, France.
Pediatr Nephrol. 2011 Nov;26(11):2081-4. doi: 10.1007/s00467-011-1949-z. Epub 2011 Jul 1.
Epidermal nevus syndrome is a rare congenital sporadic neuro-ectodermic disorder, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems. We describe a 5-year-old boy with conjunctival lipodermoid, cervical and facial sebaceous nevi who presented at 3 years of age with hypertension due to bilateral renal artery stenosis together with multiple vascular anomalies (aorta, celiac trunk, superior mesenteric artery) as shown by magnetic resonance angiography. Systemic arterial hypertension was difficult to control despite combined anti-hypertensive drugs and the surgical repair of the aortic coarctation.
表皮痣综合征是一种罕见的先天性散发性神经外胚层疾病,其特征是表皮痣与皮肤、眼睛、神经、骨骼、心血管和泌尿生殖系统的各种发育异常有关。我们描述了一名 5 岁男孩,他患有结膜脂质皮肤瘤、颈部和面部皮脂痣,3 岁时因双侧肾动脉狭窄引起的高血压和磁共振血管造影显示的多种血管异常(主动脉、腹腔干、肠系膜上动脉)就诊。尽管联合使用抗高血压药物和主动脉缩窄修复手术,全身动脉高血压仍难以控制。