Weiss Stephanie J, Srinivasan Archana, Klufas Michael A, Shields Carol L
Ocular Oncology Service, Suite 1440, Wills Eye Hospital, 840 Walnut Street, Philadelphia, PA 19107 USA.
Ophthalmology Department, Drexel University College of Medicine, Philadelphia, PA USA.
Int J Retina Vitreous. 2017 Sep 18;3:34. doi: 10.1186/s40942-017-0088-5. eCollection 2017.
Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can resemble retinoblastoma, especially when vitreoretinal fibrosis produces leukocoria.
A 2-month-old girl born full-term presented with leukocoria, suspicious for retinoblastoma. She was found to have an ischemic retrolental fibrovascular retinal detachment. In addition, there was linear cutaneous hyperpigmentation, diagnostic of incontinentia pigmenti.
Retinoblastoma can be a challenge to diagnose. There are numerous simulating lesions that can present with leukocoria and retinal detachment, including incontinentia pigmenti. Recognition of the cutaneous features of incontinentia pigmenti contributes to early detection of related ophthalmologic, neurologic and dental abnormalities.
色素失禁症是一种罕见的X连锁显性综合征，由NEMO/IKKγ基因突变引起，其特征为一系列皮肤、眼部、神经和牙齿异常。眼部表现包括视网膜血管无灌注，偶尔伴有牵拉性视网膜脱离、视网膜纤维化和视网膜色素上皮缺损。这些表现可类似于视网膜母细胞瘤，尤其是当玻璃体视网膜纤维化导致白瞳症时。
一名足月出生的2个月大女孩出现白瞳症，怀疑为视网膜母细胞瘤。检查发现她患有缺血性晶状体后纤维血管性视网膜脱离。此外，还有线性皮肤色素沉着，诊断为色素失禁症。
视网膜母细胞瘤的诊断可能具有挑战性。有许多模拟病变可表现为白瞳症和视网膜脱离，包括色素失禁症。认识色素失禁症的皮肤特征有助于早期发现相关的眼科、神经和牙齿异常。
