Incontinentia Pigmenti in an Infant Suspected of Retinoblastoma

Document Type : case report

Authors

1 Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

2 Eye research center, Mashhad University of Medical Sciences, Mashhad, Iran

3 Assistant Professor of Ophthalmology Department of Ophthalmology, School of Medicine Khatam Al Anbiya Hospital Mashhad University of Medical Sciences

4 Eye research center, Mashhad University of Medical Sciences

Abstract

Purpose: This case study reports on an infant presented with strabismus and poor red reflex, suspected of retinoblastoma, and finally diagnosed as a case of Incontinentia pigmenti (IP).
Case presentation: A 7-month-old infant was referred due to poor fixation and abrupt red reflex of the left eye for further evaluation of retinoblastoma. In anterior segment examinations, we found a micro cornea, a relatively shallow anterior chamber, and hypotonia. Fundus examination revealed a total tractional retinal detachment with vitreous membranes. In her skin examination, we discovered diffuse cutaneous linear pigmentation (lines of Blaschko), consistent with Incontinentia Pigmenti (IP).
Discussion: A wide range of disorders involving the fundus, cause similar signs and symptoms to retinoblastomas, such as leukocoria and poor red reflex, categorized as pseudo retinoblastoma. IP is a dysplastic ectodermal disorder with dominant X-linked inheritance, affecting integumentary, ocular, nervous, and dental tissues, and is responsible for less than 1% of cases of pseudo retinoblastoma. Although rare, achieving early diagnosis for IP is of utmost importance, since not only would it enable clinicians to treat and manage retinal complications, but it would also help them detect potentially fatal neurological issues.

Keywords

References

  1. Scheuerle AE, Ursini MV. Incontinentia pigmenti. 2017.
  2. Poziomczyk CS, Recuero JK, Bringhenti L, Maria FDS, Campos CW, Travi GM, Freitas AM, Maahs MAP, Gazzola Zen PR, Fiegenbaum M, Almeida STd, Bonamigo RR, Kiszewski Bau AE. Incontinentia pigmenti. Anais brasileiros de dermatologia. 2014; 89:26-36.
  3. Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. Journal of the American Academy of Dermatology. 2002; 47(2):169-90.
  4. Chen CJ, Han IC, Tian J, Muñoz B, Goldberg MF. Extended follow-up of treated and untreated retinopathy in incontinentia pigmenti: analysis of peripheral vascular changes and incidence of retinal detachment. JAMA ophthalmology. 2015; 133(5):542-8.
  5. Shields CL, Schoenberg E, Kocher K, Shukla SY, Kaliki S, Shields JA. Lesions simulating retinoblastoma (pseudo retinoblastoma) in 604 cases: results based on age at presentation. Ophthalmology. 2013; 120(2):311-6.
  6. Holmström G, Thorén K. Ocular manifestations of incontinentia pigmenti. Acta ophthalmologica Scandinavica. 2000; 78(3):348-53.
  7. Shields CL, RALPH C EAGLE J, Shah RM, Tabassian A, Shields JA. Multifocal hypopigmented retinal pigment epithelial lesions in incontinentia pigmenti. Retina. 2006; 26(3):328-33.
  8. Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, Prost Yd, Bodemer C. Clinical study of 40 cases of incontinentia pigmenti. Archives of dermatology. 2003; 139(9):1163-70.
Journal of Pediatric Perspectives
Volume 11, Issue 5
May 2023
Pages 17837-17840

Files

Share

How to cite

Statistics