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 Table of Contents  
Year : 2021  |  Volume : 1  |  Issue : 3  |  Page : 412-413

Incontinentia pigmenti presenting as pseudoretinoblastoma

1 Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia; Kremer Eye Center, King of Prussia, Pennsylvania, USA
2 Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania, USA

Date of Submission08-Oct-2020
Date of Acceptance07-Feb-2021
Date of Web Publication02-Jul-2021

Correspondence Address:
Dr. Carol L Shields
Ocular Oncology Service, Suite 1440, Wills Eye Hospital, 840 Walnut Street, Philadelphia, PA - 19107
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_3158_20

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Keywords: Incontinentia pigmenti, leucokoria, lines of blaschko, pseudoretinoblastoma, retinoblastoma

How to cite this article:
Martin S, Chatterjee A, Yaghy A, Shields CL. Incontinentia pigmenti presenting as pseudoretinoblastoma. Indian J Ophthalmol Case Rep 2021;1:412-3

How to cite this URL:
Martin S, Chatterjee A, Yaghy A, Shields CL. Incontinentia pigmenti presenting as pseudoretinoblastoma. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Sep 25];1:412-3. Available from: https://www.ijoreports.in/text.asp?2021/1/3/412/320110

A 2-month-old girl of Indian descent, born at term via C-section, presented with leukocoria and enophthalmos of her right eye (OD) [Figure 1]a. Fundus examination OD revealed total traction retinal detachment (RD) pulling the entire retina anteriorly with attachment to the lens and pars plicata as well as bare retinal pigment epithelium temporally [Figure 1]b. B-scan ultrasonography OD confirmed total RD with macrocysts and no calcification [Figure 1]c. Fluorescein angiography demonstrated extensive retinal ischemia, findings not consistent with retinoblastoma (RB). Upon further evaluation, the patient was found to have a diffuse cutaneous linear pigmentation ( Lines of Blaschko More Details), consistent with Incontinentia Pigmenti (IP) [Figure 1]d.
Figure 1: (a) External photograph of the right eye showing leukocoria and posterior synechiae. (b) Fundus photograph showing a large, elevated white fibrotic mass with surrounding hemorrhage. (c) B-scan ultrasonography demonstrating an echogenic mass without calcification. (d) External photography of the lower extremities revealing cutaneous pigmented and atrophic spots, consistent with Blaschko's lines, suggestive of Incontinentia Pigmenti

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  Discussion Top

Leukocoria carries a broad differential diagnosis that varies by age at presentation, but RB, the most common eye cancer in children, must be ruled out first. The most common causes of pseudoretinoblastoma include Coats disease, persistent fetal vasculature (PFV), vitreous hemorrhage (VH), ocular toxocariasis, and rhegmatogenous retinal detachment (RRD).[1] Incontinentia Pigmenti is an uncommon diagnosis for pseudoretinoblastoma.[2] Major diagnostic criteria for IP include hyperpigmentation along lines of Blaschko and atrophic, hairless lesions on the skin.[3] Incontinentia Pigmenti is a rare, X-linked dominant disease caused by a mutation in the gene encoding transcription factor NEMO (Nuclear Factor Essential Modifier) resulting in characteristic dermatologic, neurologic, ophthalmic, and dental manifestations. Around 37% of patients with IP have discernible eye pathology, and 60% to 90% have retinal issues including avascularity, neovascularization, hemorrhages, absence of a foveal pit, optic nerve atrophy, and most commonly, RD.[4],[5] Treatment of ocular manifestations varies and is aimed at controlling peripheral nonperfusion and related retinal neovascularization.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Support provided by Eye Tumor Research Foundation, Philadelphia, PA (CLS). The funders had no role in the design and conduct of the study, in the collection, analysis and interpretation of the data, and in the preparation, review or approval of the manuscript. Carol L. Shields, M.D. has had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. No conflicting relationship exists for any author. The authors do not have any commercial or proprietary interest in the product or company discussed.

Conflicts of interest

There are no conflicts of interest.

  References Top

Shields CL, Schoenberg E, Kocher K, Shukla SY, Kaliki S, Shields JA. Lesions simulating retinoblastoma (pseudoretinoblastoma) in 604 cases: Results based on age at presentation. Ophthalmology 2013;120:311-6.  Back to cited text no. 1
Shields JA, Parsons HM, Shields CL, Shah P. Lesions simulating retinoblastoma. J Pediatr Ophthalmol Strabismus 1991;28:338-40.  Back to cited text no. 2
Shields CL, Eagle RC Jr, Shah RM, Tabassian A, Shields JA. Multifocal hypopigmented retinal pigment epithelial lesions in incontinentia pigmenti. Retina 2006;26:328-33.  Back to cited text no. 3
Rishi P, Singh N, Rishi E. Retinopathy in incontinentia pigmenti. Indian J Ophthalmol 2019;67:940-2  Back to cited text no. 4
Swinney CC, Han DP, Karth PA. Incontinentia pigmenti: A comprehensive review and update. Ophthalmic Surg Lasers Imaging Retina 2015;46:650-7.  Back to cited text no. 5


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