|Year : 2021 | Volume
| Issue : 3 | Page : 412-413
Incontinentia pigmenti presenting as pseudoretinoblastoma
Samuel Martin1, Ayan Chatterjee1, Antonio Yaghy2, Carol L Shields2
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 Submission||08-Oct-2020|
|Date of Acceptance||07-Feb-2021|
|Date of Web Publication||02-Jul-2021|
Dr. Carol L Shields
Ocular Oncology Service, Suite 1440, Wills Eye Hospital, 840 Walnut Street, Philadelphia, PA - 19107
Source of Support: None, Conflict of Interest: None
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|| |
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). Incontinentia Pigmenti is an uncommon diagnosis for pseudoretinoblastoma. Major diagnostic criteria for IP include hyperpigmentation along lines of Blaschko and atrophic, hairless lesions on the skin. 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., 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.
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